Variant report

Variant	nsv508250
Chromosome Location	chr3:142842454-142943722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1361)
CpG islands
(count:672)
Chromatin interactive
region (count:113)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1361 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:142884555-142884662	K562	blood:	n/a	n/a
2	ARID3A	chr3:142900853-142901159	K562	blood:	n/a	n/a
3	ARID3A	chr3:142897049-142897053	K562	blood:	n/a	n/a
4	ARID3A	chr3:142902142-142902812	K562	blood:	n/a	n/a
5	ARID3A	chr3:142887160-142887701	K562	blood:	n/a	n/a
6	ATF1	chr3:142884502-142884840	K562	blood:	n/a	n/a
7	ATF1	chr3:142887275-142887709	K562	blood:	n/a	n/a
8	ATF1	chr3:142896868-142897147	K562	blood:	n/a	n/a
9	ATF2	chr3:142899282-142899641	GM12878	blood:	n/a	n/a
10	ATF2	chr3:142877219-142877968	GM12878	blood:	n/a	n/a
11	ATF2	chr3:142876783-142877936	GM12878	blood:	n/a	n/a
12	ATF2	chr3:142841288-142842913	GM12878	blood:	n/a	n/a
13	ATF2	chr3:142841443-142842980	GM12878	blood:	n/a	n/a
14	ATF2	chr3:142884217-142884797	GM12878	blood:	n/a	n/a
15	ATF2	chr3:142883498-142884818	GM12878	blood:	n/a	n/a
16	ATF2	chr3:142925940-142926781	GM12878	blood:	n/a	n/a
17	ATF2	chr3:142851015-142851521	GM12878	blood:	n/a	n/a
18	ATF2	chr3:142926094-142926643	GM12878	blood:	n/a	n/a
19	ATF2	chr3:142883476-142884102	GM12878	blood:	n/a	n/a
20	ATF2	chr3:142850954-142851793	GM12878	blood:	n/a	n/a
21	ATF3	chr3:142941383-142941722	K562	blood:	n/a	n/a
22	ATF3	chr3:142884466-142884763	K562	blood:	n/a	n/a
23	ATF3	chr3:142887373-142887703	K562	blood:	n/a	n/a
24	BACH1	chr3:142926223-142926583	K562	blood:	n/a	n/a
25	BACH1	chr3:142926292-142926562	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr3:142883652-142884050	GM12878	blood:	n/a	n/a
27	BATF	chr3:142883729-142884024	GM12878	blood:	n/a	n/a
28	BATF	chr3:142896728-142896940	GM12878	blood:	n/a	n/a
29	BATF	chr3:142896975-142897185	GM12878	blood:	n/a	chr3:142897061-142897072
30	BATF	chr3:142896967-142897183	GM12878	blood:	n/a	chr3:142897061-142897072
31	BATF	chr3:142876551-142877851	GM12878	blood:	n/a	n/a
32	BATF	chr3:142854077-142854399	GM12878	blood:	n/a	chr3:142854210-142854221 chr3:142854084-142854094
33	BATF	chr3:142926120-142926589	GM12878	blood:	n/a	n/a
34	BATF	chr3:142876880-142877317	GM12878	blood:	n/a	n/a
35	BATF	chr3:142842185-142842521	GM12878	blood:	n/a	n/a
36	BATF	chr3:142884468-142884777	GM12878	blood:	n/a	n/a
37	BATF	chr3:142851018-142851369	GM12878	blood:	n/a	chr3:142851221-142851231 chr3:142851220-142851231
38	BATF	chr3:142877358-142877838	GM12878	blood:	n/a	n/a
39	BATF	chr3:142884528-142884761	GM12878	blood:	n/a	n/a
40	BCL11A	chr3:142876952-142877287	GM12878	blood:	n/a	n/a
41	BCL11A	chr3:142842125-142842567	GM12878	blood:	n/a	chr3:142842423-142842432
42	BCL11A	chr3:142896930-142897147	GM12878	blood:	n/a	n/a
43	BCL11A	chr3:142926060-142926545	GM12878	blood:	n/a	n/a
44	BCL11A	chr3:142884551-142884779	GM12878	blood:	n/a	chr3:142884671-142884680 chr3:142884670-142884679
45	BCL11A	chr3:142883668-142884076	GM12878	blood:	n/a	n/a
46	BCL11A	chr3:142884480-142884778	GM12878	blood:	n/a	chr3:142884671-142884680 chr3:142884670-142884679
47	BCL11A	chr3:142877500-142877784	GM12878	blood:	n/a	chr3:142877585-142877594 chr3:142877584-142877593
48	BCL11A	chr3:142851091-142851422	GM12878	blood:	n/a	n/a
49	BCL11A	chr3:142926100-142926557	GM12878	blood:	n/a	n/a
50	BCL11A	chr3:142876924-142877894	GM12878	blood:	n/a	chr3:142877585-142877594 chr3:142877584-142877593

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142890118-142890168	HCF	heart:	n/a
2	chr3:142890118-142890168	HCF	heart:	n/a
3	chr3:142895861-142895911	GM06990	blood:	n/a
4	chr3:142926178-142926228	HEK293	kidney:	embryo
5	chr3:142895375-142895425	Caco-2	colon:	n/a
6	chr3:142873975-142874025	RPTEC	kidney:	n/a
7	chr3:142926178-142926228	HCPEpiC	choroid plexus:	n/a
8	chr3:142895375-142895425	AoSMC	blood vessel:	n/a
9	chr3:142873975-142874025	NH-A	brain:	n/a
10	chr3:142890118-142890168	Hela-S3	cervix:	n/a
11	chr3:142854187-142854237	ovcar-3	ovarian:	n/a
12	chr3:142873975-142874025	HPAEpiC	pulmonary alveolar:	n/a
13	chr3:142893947-142893997	HCPEpiC	choroid plexus:	n/a
14	chr3:142890118-142890168	HUVEC	blood vessel:	n/a
15	chr3:142895861-142895911	SK-N-SH	brain:	n/a
16	chr3:142893947-142893997	PFSK-1	brain:	n/a
17	chr3:142895861-142895911	HCPEpiC	choroid plexus:	n/a
18	chr3:142895279-142895329	NH-A	brain:	n/a
19	chr3:142926178-142926228	RPTEC	kidney:	n/a
20	chr3:142873975-142874025	H1-hESC	embryonic stem cell:	embryo
21	chr3:142895279-142895329	AG04450	lung:	fetal
22	chr3:142854187-142854237	HRCEpiC	kidney:	n/a
23	chr3:142895375-142895425	T-47D	breast:	n/a
24	chr3:142895279-142895329	HCPEpiC	choroid plexus:	n/a
25	chr3:142895861-142895911	HRPEpiC	eye:	n/a
26	chr3:142844036-142844086	T-47D	breast:	n/a
27	chr3:142854187-142854237	GM19239	blood:	n/a
28	chr3:142890118-142890168	U87	brain:	n/a
29	chr3:142895279-142895329	HUVEC	blood vessel:	n/a
30	chr3:142844036-142844086	HRPEpiC	eye:	n/a
31	chr3:142895375-142895425	HUVEC	blood vessel:	n/a
32	chr3:142844036-142844086	HEK293	kidney:	embryo
33	chr3:142926178-142926228	NHDF-neo	bronchial:	n/a
34	chr3:142890118-142890168	NHBE	bronchial:	n/a
35	chr3:142895375-142895425	SKMC	muscle:	n/a
36	chr3:142873975-142874025	GM12891	blood:	n/a
37	chr3:142858878-142858928	AG04449	skin:	fetal
38	chr3:142895279-142895329	AG09309	skin:	n/a
39	chr3:142893947-142893997	AG09309	skin:	n/a
40	chr3:142926178-142926228	MCF10A-Er-Src	breast:	n/a
41	chr3:142893947-142893997	ECC-1	luminal epithelium:	n/a
42	chr3:142844036-142844086	AG09319	gingival:	n/a
43	chr3:142888303-142888353	GM12892	blood:	n/a
44	chr3:142926178-142926228	HNPCEpiC	eye:	n/a
45	chr3:142895861-142895911	AG09309	skin:	n/a
46	chr3:142854187-142854237	AG09309	skin:	n/a
47	chr3:142893947-142893997	HRCEpiC	kidney:	n/a
48	chr3:142858878-142858928	GM19239	blood:	n/a
49	chr3:142895279-142895329	K562	blood:	n/a
50	chr3:142854187-142854237	T-47D	breast:	n/a

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:142837172..142841368-chr3:142932749..142935572,3	K562	blood:
2	chr3:142943499..142945080-chr3:143037580..143040276,2	K562	blood:
3	chr3:142841180..142845810-chr3:142884202..142887242,4	K562	blood:
4	chr3:142842312..142844525-chr3:142920222..142922927,2	K562	blood:
5	chr3:142926220..142927861-chr3:142959735..142962076,2	K562	blood:
6	chr3:142889235..142895118-chr3:142897231..142901814,7	K562	blood:
7	chr3:142938667..142941480-chr3:142941937..142946054,4	K562	blood:
8	chr3:142878953..142880947-chr3:142881192..142883078,2	K562	blood:
9	chr3:142933374..142937118-chr3:142939813..142945037,5	K562	blood:
10	chr3:142917669..142921522-chr3:142924910..142927664,3	K562	blood:
11	chr3:142854742..142857547-chr3:142861968..142864216,2	K562	blood:
12	chr3:142889235..142895118-chr3:142897231..142901814,7	K562	blood:
13	chr3:142922192..142925185-chr3:142931380..142934358,2	K562	blood:
14	chr3:142851820..142854133-chr3:142856452..142858967,2	MCF-7	breast:
15	chr3:142842312..142844525-chr3:142920222..142922927,2	K562	blood:
16	chr3:142877084..142878640-chr3:142882606..142885424,2	K562	blood:
17	chr3:142867078..142870020-chr3:142871311..142874550,3	K562	blood:
18	chr3:142908825..142914026-chr3:142914356..142919906,7	K562	blood:
19	chr3:142875650..142878540-chr3:142902217..142903747,2	K562	blood:
20	chr3:142867078..142870020-chr3:142871311..142874550,3	K562	blood:
21	chr3:142935120..142937637-chr3:142937877..142939570,2	MCF-7	breast:
22	chr3:142872175..142873721-chr3:142875335..142876935,2	K562	blood:
23	chr3:142917101..142918800-chr3:142923414..142925582,2	K562	blood:
24	chr3:142930578..142932212-chr3:142932647..142934719,2	K562	blood:
25	chr3:142878953..142880947-chr3:142881192..142883078,2	K562	blood:
26	chr3:142842113..142844822-chr3:142868561..142870240,2	K562	blood:
27	chr3:142900165..142901896-chr3:142950119..142953076,2	K562	blood:
28	chr3:142862489..142866780-chr3:142867641..142872895,6	K562	blood:
29	chr3:142918300..142920057-chr3:142921412..142923080,2	K562	blood:
30	chr3:142918300..142920442-chr3:142921412..142923086,3	K562	blood:
31	chr3:142899439..142901462-chr3:142905793..142908005,2	K562	blood:
32	chr3:142901683..142905677-chr3:142909688..142913196,5	K562	blood:
33	chr3:142821256..142824005-chr3:142845694..142847752,2	K562	blood:
34	chr3:142925537..142928123-chr3:142932131..142934327,2	K562	blood:
35	chr3:142918145..142921332-chr3:143025862..143029822,3	K562	blood:
36	chr3:142904057..142907019-chr3:142910125..142912001,3	K562	blood:
37	chr3:142907021..142910266-chr3:142911152..142913564,3	K562	blood:
38	chr3:142837925..142840306-chr3:142842832..142844357,2	MCF-7	breast:
39	chr3:142929008..142930843-chr3:142953006..142954925,2	K562	blood:
40	chr3:142907021..142910266-chr3:142911152..142913564,3	K562	blood:
41	chr3:142925537..142928123-chr3:142932131..142934327,2	K562	blood:
42	chr3:142845393..142847101-chr3:143393090..143394841,2	K562	blood:
43	chr3:142835029..142837215-chr3:142844723..142846346,2	MCF-7	breast:
44	chr3:142842351..142844405-chr3:142885462..142887277,2	K562	blood:
45	chr3:142930578..142932212-chr3:142932647..142934719,2	K562	blood:
46	chr3:142910443..142912503-chr3:142926393..142928620,2	K562	blood:
47	chr3:142882417..142885348-chr3:142887165..142889309,2	K562	blood:
48	chr3:142889368..142891930-chr3:142894381..142895952,2	K562	blood:
49	chr3:142837194..142839590-chr3:142902275..142903779,2	K562	blood:
50	chr3:142841180..142845810-chr3:142884202..142887242,4	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHST2-2	chr3:142850560-142850735	ENSG00000241679
2	lnc-CHST2-2	chr3:142850560-142850733	XLOC_002849
3	lnc-CHST2-2	chr3:142849528-142851286	NONHSAT092521
4	lnc-CHST2-2	chr3:142850116-142850470	XLOC_002849

No data

Variant related genes	Relation type
PBX2P1	TF binding region
ENSG00000211483	TF binding region
ENSG00000241679	TF binding region
PBX2P1	CpG island
ENSG00000211483	CpG island
ENSG00000241679	CpG island
ENSG00000175040	chromatin interactions
ENSG00000241679	chromatin interactions
ENSG00000211483	chromatin interactions
ENSG00000163714	chromatin interactions
ENSG00000244171	chromatin interactions
BCL2L11	miRNA target sites

Extended variants
information (count: 3908 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3908 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59428453	chr3:142842488-142842489	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143951094	chr3:142842497-142842498	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559594892	chr3:142842519-142842520	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs559463380	chr3:142842521-142842522	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs114550052	chr3:142842595-142842596	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs2292509	chr3:142842764-142842765	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563065442	chr3:142842772-142842773	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530489396	chr3:142842785-142842786	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189064879	chr3:142842804-142842805	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560578895	chr3:142842805-142842806	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143342705	chr3:142842853-142842854	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs547022694	chr3:142842855-142842856	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs568677175	chr3:142842856-142842857	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs181246704	chr3:142842874-142842875	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs547819155	chr3:142842876-142842877	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs566450931	chr3:142842899-142842900	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs551164772	chr3:142842906-142842907	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs2292508	chr3:142842966-142842967	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148368900	chr3:142842989-142842990	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555077408	chr3:142843002-142843003	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112246285	chr3:142843007-142843008	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs59144348	chr3:142843024-142843025	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs141582923	chr3:142843122-142843123	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs577841010	chr3:142843140-142843141	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185400138	chr3:142843193-142843194	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs1115109	chr3:142843198-142843199	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs190608458	chr3:142843263-142843264	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575075407	chr3:142843276-142843277	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs182867558	chr3:142843294-142843295	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs207463788	chr3:142843422-142843423	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs150504628	chr3:142843439-142843440	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187374061	chr3:142843560-142843561	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs374215846	chr3:142843573-142843574	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs60523505	chr3:142843582-142843583	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565458752	chr3:142843614-142843615	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs113157035	chr3:142843625-142843626	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139827617	chr3:142843630-142843631	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569499591	chr3:142843634-142843635	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530313489	chr3:142843654-142843655	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192322773	chr3:142843672-142843673	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566916593	chr3:142843685-142843686	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs528295470	chr3:142843710-142843711	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558547112	chr3:142843739-142843740	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs570179924	chr3:142843759-142843760	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183642435	chr3:142843760-142843761	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs4491864	chr3:142843787-142843788	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537558790	chr3:142843793-142843794	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542073053	chr3:142843815-142843816	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187938096	chr3:142843817-142843818	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs558878079	chr3:142843865-142843866	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1426 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142837800-142843400	Active TSS	Fetal Kidney	kidney
2	chr3:142839200-142845800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr3:142839200-142847200	Transcr. at gene 5' and 3'	Fetal Lung	lung
4	chr3:142839600-142843200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:142840200-142842800	Weak transcription	Liver	Liver
6	chr3:142840200-142843000	Flanking Active TSS	GM12878-XiMat	blood
7	chr3:142840200-142843600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:142840400-142843000	Enhancers	Primary hematopoietic stem cells	blood
9	chr3:142840400-142843400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:142840400-142843400	Weak transcription	HSMMtube	muscle
11	chr3:142840400-142843600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:142840400-142843600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:142840600-142842600	Enhancers	Primary B cells from peripheral blood	blood
14	chr3:142840600-142842800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:142840600-142843200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:142840600-142843600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:142840600-142845200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr3:142840600-142854600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:142840800-142843200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:142840800-142843600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:142840800-142843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:142840800-142843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:142840800-142843800	Weak transcription	Pancreas	Pancrea
24	chr3:142841000-142842600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:142841000-142842800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:142841000-142843600	Weak transcription	HSMM	muscle
27	chr3:142841000-142843800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:142841000-142848600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:142841200-142843000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr3:142841200-142843600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:142841200-142843600	Weak transcription	Brain Angular Gyrus	brain
32	chr3:142841200-142843600	Weak transcription	Gastric	stomach
33	chr3:142841200-142843800	Weak transcription	Lung	lung
34	chr3:142841200-142852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:142841200-142853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:142841200-142858000	Weak transcription	Spleen	Spleen
37	chr3:142841400-142842800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr3:142841400-142843000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr3:142841400-142843400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:142841400-142844600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr3:142841400-142844600	Active TSS	Fetal Brain Male	brain
42	chr3:142841600-142842800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr3:142841600-142843000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr3:142841600-142843600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:142841800-142842600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:142841800-142842600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:142841800-142842600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr3:142841800-142842800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr3:142841800-142844000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:142842000-142842600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood

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