Variant report

Variant	rs6441117
Chromosome Location	chr3:156878565-156878566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:447)
CpG islands
(count:0)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:156876714-156879143	HUVEC	blood vessel:	n/a	n/a
2	SPI1	chr3:156877759-156878816	HL-60	blood:	n/a	chr3:156878527-156878536 chr3:156878525-156878538 chr3:156878524-156878537
3	CEBPB	chr3:156877748-156878862	IMR90	lung:	n/a	n/a
4	TAF1	chr3:156878365-156878705	GM12892	blood:	n/a	n/a
5	POLR2A	chr3:156875169-156879293	MCF10A-Er-Src	breast:	n/a	n/a
6	IRF1	chr3:156877766-156878762	K562	blood:	n/a	n/a
7	TCF12	chr3:156876865-156878956	A549	lung:	n/a	n/a
8	POLR2A	chr3:156876034-156879187	GM12892	blood:	n/a	n/a
9	ZNF143	chr3:156877533-156878648	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT3	chr3:156877802-156879280	Hela-S3	cervix:	n/a	n/a
11	YY1	chr3:156878423-156878645	K562	blood:	n/a	n/a
12	TBP	chr3:156877008-156879123	H1-hESC	embryonic stem cell:	n/a	chr3:156878569-156878580
13	MTA3	chr3:156876897-156879216	GM12878	blood:	n/a	n/a
14	TAF1	chr3:156877022-156878719	SK-N-SH	brain:	n/a	n/a
15	EP300	chr3:156877628-156878848	A549	lung:	n/a	n/a
16	GATA2	chr3:156878422-156879137	HUVEC	blood vessel:	n/a	chr3:156878771-156878781 chr3:156878865-156878875
17	YY1	chr3:156876764-156878590	SK-N-SH	brain:	n/a	chr3:156877370-156877379 chr3:156877323-156877332 chr3:156878064-156878073 chr3:156877327-156877349 chr3:156878059-156878073 chr3:156877318-156877332 chr3:156878065-156878079 chr3:156877327-156877337 chr3:156877367-156877376 chr3:156877315-156877329 chr3:156877365-156877379 chr3:156877330-156877338 chr3:156877370-156877381 chr3:156877367-156877378 chr3:156877327-156877337
18	ETS1	chr3:156877550-156878612	A549	lung:	n/a	chr3:156878002-156878013 chr3:156878001-156878016
19	POLR2A	chr3:156877099-156878944	GM18526	blood:	n/a	n/a
20	CTCF	chr3:156878420-156878570	AG04449	skin:	n/a	n/a
21	POU2F2	chr3:156877398-156878910	GM12878	blood:	n/a	n/a
22	GATA3	chr3:156878305-156879064	T-47D	breast:	n/a	chr3:156878771-156878781 chr3:156878865-156878875
23	POLR2A	chr3:156877574-156878864	U87	brain:	n/a	n/a
24	REST	chr3:156878307-156878615	SK-N-SH	brain:	n/a	n/a
25	MBD4	chr3:156877645-156878746	HepG2	liver:	n/a	n/a
26	POLR2A	chr3:156877455-156879114	HUVEC	blood vessel:	n/a	n/a
27	NFIC	chr3:156877665-156879016	GM12878	blood:	n/a	n/a
28	EP300	chr3:156877597-156878839	HepG2	liver:	n/a	n/a
29	POLR2A	chr3:156877184-156878926	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:156876806-156878978	GM12891	blood:	n/a	n/a
31	CEBPB	chr3:156877737-156878856	ECC-1	luminal epithelium:	n/a	n/a
32	TCF7L2	chr3:156877225-156878701	HCT-116	colon:	n/a	chr3:156878378-156878388
33	TAF1	chr3:156877626-156878663	K562	blood:	n/a	n/a
34	MAFK	chr3:156877828-156878713	K562	blood:	n/a	n/a
35	POLR2A	chr3:156876935-156878776	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:156876253-156879191	HepG2	liver:	n/a	n/a
37	POLR2A	chr3:156876812-156879195	GM12892	blood:	n/a	n/a
38	POLR2A	chr3:156875365-156879216	IMR90	lung:	n/a	n/a
39	POLR2A	chr3:156875302-156879130	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr3:156877816-156878815	A549	lung:	n/a	n/a
41	MBD4	chr3:156877525-156878628	HepG2	liver:	n/a	n/a
42	MYC	chr3:156878463-156878736	HepG2	liver:	n/a	n/a
43	EBF1	chr3:156878329-156878765	GM12878	blood:	n/a	chr3:156878501-156878510
44	REST	chr3:156878492-156878692	GM12878	blood:	n/a	n/a
45	SP1	chr3:156878363-156878835	GM12878	blood:	n/a	n/a
46	USF2	chr3:156876888-156878719	GM12878	blood:	n/a	chr3:156877313-156877329 chr3:156877367-156877383 chr3:156877369-156877385
47	POLR2A	chr3:156874371-156879129	GM12891	blood:	n/a	n/a
48	TBL1XR1	chr3:156877733-156878768	K562	blood:	n/a	n/a
49	POLR2A	chr3:156876914-156878985	U87	brain:	n/a	n/a
50	POLR2A	chr3:156873921-156879347	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156877271..156878729-chr3:156891908..156893288,13	MCF-7	breast:
2	chr16:2204892..2205520-chr3:156877723..156878580,2	NB4	blood:
3	chr12:96793421..96794069-chr3:156877874..156878607,2	Hela-S3	cervix:
4	chr19:47615631..47616867-chr3:156877843..156878906,3	Hela-S3	cervix:
5	chr3:156799577..156801238-chr3:156877640..156879746,2	K562	blood:
6	chr2:157188753..157189751-chr3:156877871..156878627,2	NB4	blood:
7	chr3:156270417..156272669-chr3:156876892..156879496,3	MCF-7	breast:
8	chr12:52445120..52446136-chr3:156877833..156878965,3	Hela-S3	cervix:
9	chr15:41624471..41625190-chr3:156878541..156879113,2	Hela-S3	cervix:
10	chr16:89894754..89895427-chr3:156877779..156878582,2	Hela-S3	cervix:
11	chr3:156877577..156878787-chr3:156892042..156894243,14	HCT-116	colon:
12	chr11:65266062..65267005-chr3:156878215..156879104,2	Hela-S3	cervix:
13	chr1:119682997..119683503-chr3:156878030..156878682,2	Hela-S3	cervix:
14	chr3:156806442..156808690-chr3:156876399..156878751,3	K562	blood:
15	chr3:156878407..156879008-chr7:102715174..102716014,2	Hela-S3	cervix:
16	chr3:156533151..156536166-chr3:156876536..156878958,4	MCF-7	breast:
17	chr3:156878034..156878571-chr9:130953487..130954306,2	Hela-S3	cervix:
18	chr1:37939661..37940466-chr3:156877727..156878581,2	Hela-S3	cervix:
19	chr3:156876906..156878652-chr5:112849281..112850980,2	MCF-7	breast:
20	chr3:156390967..156393612-chr3:156877452..156879722,5	K562	blood:
21	chr12:49658449..49659329-chr3:156878118..156878938,3	Hela-S3	cervix:
22	chr3:156877426..156878618-chr5:7868821..7869708,4	Hela-S3	cervix:
23	chr15:44083948..44084455-chr3:156878041..156878744,2	Hela-S3	cervix:
24	chr18:72264398..72265408-chr3:156877651..156878831,3	Hela-S3	cervix:
25	chr11:9594918..9595451-chr3:156878182..156878802,2	Hela-S3	cervix:
26	chr3:156533566..156537799-chr3:156875553..156879495,5	MCF-7	breast:
27	chr3:156270403..156273229-chr3:156876136..156878579,3	K562	blood:
28	chr17:61850669..61851474-chr3:156878244..156879352,3	Hela-S3	cervix:
29	chr13:80915047..80915576-chr3:156877865..156878628,2	Hela-S3	cervix:
30	chr3:156877915..156878585-chr9:37784803..37785347,2	Hela-S3	cervix:
31	chr16:70834665..70835214-chr3:156878115..156878623,2	Hela-S3	cervix:
32	chr3:156877079..156878844-chr3:156892396..156893424,14	MCF-7	breast:
33	chr3:156391251..156395598-chr3:156875832..156879722,8	K562	blood:
34	chr3:156542707..156546513-chr3:156875626..156880471,4	K562	blood:
35	chr1:11968054..11969170-chr3:156878150..156878793,3	Hela-S3	cervix:
36	chr3:156877312..156878829-chr3:157215828..157217398,2	MCF-7	breast:
37	chr19:859080..859777-chr3:156877634..156878626,2	Hela-S3	cervix:
38	chr3:156877804..156878630-chr5:132202019..132202649,2	Hela-S3	cervix:
39	chr1:222886029..222886690-chr3:156878406..156878911,2	Hela-S3	cervix:
40	chr1:245027282..245027917-chr3:156878222..156878967,2	Hela-S3	cervix:
41	chr1:24968835..24969811-chr3:156878193..156878744,2	Hela-S3	cervix:
42	chr2:131594435..131595031-chr3:156878104..156879008,2	Hela-S3	cervix:
43	chr3:156390449..156395705-chr3:156876136..156879645,10	MCF-7	breast:
44	chr12:115121554..115122282-chr3:156877736..156878631,2	Hela-S3	cervix:
45	chr3:156877990..156879497-chr6:26155874..26158713,2	MCF-7	breast:
46	chr1:169454840..169455424-chr3:156878085..156879028,2	Hela-S3	cervix:
47	chr3:156876658..156879378-chr3:156891661..156893506,34	Hela-S3	cervix:
48	chr14:50329175..50329695-chr3:156878004..156878896,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000241770	TF binding region
CCNL1	TF binding region
ENSG00000233221	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000222675	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000107371	Chromatin interaction
ENSG00000148337	Chromatin interaction
ENSG00000153234	Chromatin interaction
ENSG00000164404	Chromatin interaction
ENSG00000197980	Chromatin interaction
ENSG00000137804	Chromatin interaction
ENSG00000124279	Chromatin interaction
ENSG00000117479	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000135111	Chromatin interaction
ENSG00000108588	Chromatin interaction
ENSG00000164405	Chromatin interaction
ENSG00000264247	Chromatin interaction
ENSG00000197766	Chromatin interaction
ENSG00000163659	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000197415	Chromatin interaction
ENSG00000124275	Chromatin interaction
ENSG00000241135	Chromatin interaction
ENSG00000243176	Chromatin interaction
ENSG00000215421	Chromatin interaction
ENSG00000198231	Chromatin interaction
ENSG00000136158	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000204991	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000116874	Chromatin interaction
ENSG00000231365	Chromatin interaction
ENSG00000241544	Chromatin interaction
ENSG00000170632	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000114850	Chromatin interaction
ENSG00000153187	Chromatin interaction
ENSG00000213062	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000133226	Chromatin interaction
ENSG00000240875	Chromatin interaction
ENSG00000047188	Chromatin interaction
ENSG00000265150	Chromatin interaction
ENSG00000104147	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000142230	Chromatin interaction
ENSG00000136002	Chromatin interaction
ENSG00000059758	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2088810	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6765828	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6771109	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6776647	0.83[EUR][1000 genomes]
rs7614339	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349885	chr3:156685409-156878910	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv520331	chr3:156858300-156915650	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156871800-156879200	Active TSS	Right Ventricle	heart
2	chr3:156872000-156878600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:156872200-156879000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
4	chr3:156872400-156879200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:156874800-156879000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:156875000-156879000	Active TSS	Psoas Muscle	Psoas
7	chr3:156875400-156878800	Active TSS	Ovary	ovary
8	chr3:156875800-156879000	Active TSS	Left Ventricle	heart
9	chr3:156876000-156878800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:156876200-156879000	Active TSS	Small Intestine	intestine
11	chr3:156876400-156878800	Active TSS	Fetal Intestine Small	intestine
12	chr3:156876400-156878800	Active TSS	Stomach Mucosa	stomach
13	chr3:156876400-156879000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:156876600-156878600	Active TSS	Lung	lung
15	chr3:156876600-156878600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr3:156876600-156878800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:156876600-156878800	Bivalent/Poised TSS	HepG2	liver
18	chr3:156876600-156879000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr3:156876600-156879000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:156876600-156879000	Active TSS	Fetal Brain Male	brain
21	chr3:156876600-156879200	Active TSS	Fetal Muscle Trunk	muscle
22	chr3:156876800-156878600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:156876800-156878600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:156876800-156878600	Active TSS	Adipose Nuclei	Adipose
25	chr3:156876800-156878600	Active TSS	Fetal Muscle Leg	muscle
26	chr3:156876800-156878800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:156876800-156878800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr3:156876800-156878800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:156876800-156878800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:156876800-156878800	Active TSS	Brain Angular Gyrus	brain
31	chr3:156876800-156878800	Active TSS	Brain Hippocampus Middle	brain
32	chr3:156876800-156878800	Active TSS	Fetal Intestine Large	intestine
33	chr3:156876800-156878800	Active TSS	Fetal Stomach	stomach
34	chr3:156876800-156878800	Active TSS	Stomach Smooth Muscle	stomach
35	chr3:156876800-156878800	Active TSS	Thymus	Thymus
36	chr3:156876800-156878800	Active TSS	NHLF	lung
37	chr3:156876800-156879000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr3:156876800-156879200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr3:156877000-156878600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:156877000-156878600	Active TSS	Brain Cingulate Gyrus	brain
41	chr3:156877000-156878600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:156877000-156878600	Active TSS	Fetal Heart	heart
43	chr3:156877000-156878600	Active TSS	Gastric	stomach
44	chr3:156877000-156878800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr3:156877000-156878800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:156877000-156878800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:156877000-156878800	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr3:156877000-156878800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr3:156877000-156878800	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr3:156877000-156878800	Active TSS	Brain Anterior Caudate	brain

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