Variant report

Variant	esv1832270
Chromosome Location	chr7:99573024-99610644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1590)
CpG islands
(count:1345)
Chromatin interactive
region (count:85)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1590 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99601325-99601936	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:99588561-99588855	K562	blood:	n/a	n/a
3	ARID3A	chr7:99588540-99588839	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:99591850-99592144	K562	blood:	n/a	n/a
5	ARID3A	chr7:99578392-99578401	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:99591808-99592148	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:99595227-99595537	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:99610285-99610671	HepG2	liver:	n/a	n/a
9	ARID3A	chr7:99577288-99577300	K562	blood:	n/a	n/a
10	ARID3A	chr7:99573511-99574236	HepG2	liver:	n/a	n/a
11	ATF2	chr7:99595132-99595501	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr7:99588383-99588853	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr7:99588414-99588699	GM12878	blood:	n/a	n/a
14	ATF2	chr7:99595114-99595627	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr7:99588519-99588908	A549	lung:	n/a	n/a
16	BACH1	chr7:99588600-99588743	K562	blood:	n/a	n/a
17	BCLAF1	chr7:99595032-99595589	GM12878	blood:	n/a	chr7:99595317-99595326
18	BHLHE40	chr7:99573751-99574031	HepG2	liver:	n/a	n/a
19	BHLHE40	chr7:99588564-99588813	K562	blood:	n/a	n/a
20	BHLHE40	chr7:99591934-99592020	K562	blood:	n/a	n/a
21	BHLHE40	chr7:99595199-99595648	GM12878	blood:	n/a	n/a
22	BHLHE40	chr7:99576876-99576892	K562	blood:	n/a	n/a
23	BHLHE40	chr7:99601366-99601918	HepG2	liver:	n/a	n/a
24	BHLHE40	chr7:99577510-99577734	K562	blood:	n/a	n/a
25	BHLHE40	chr7:99595201-99595644	HepG2	liver:	n/a	n/a
26	BHLHE40	chr7:99577501-99577734	GM12878	blood:	n/a	n/a
27	BRCA1	chr7:99601493-99601826	HepG2	liver:	n/a	n/a
28	BRCA1	chr7:99591862-99592076	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr7:99588497-99588920	K562	blood:	n/a	n/a
30	CBX3	chr7:99580102-99580449	K562	blood:	n/a	n/a
31	CBX3	chr7:99588462-99588995	K562	blood:	n/a	n/a
32	CCNT2	chr7:99588638-99588787	K562	blood:	n/a	n/a
33	CEBPB	chr7:99583119-99583425	Hela-S3	cervix:	n/a	chr7:99583288-99583301
34	CEBPB	chr7:99610142-99610766	MCF-7	breast:	n/a	chr7:99610382-99610395
35	CEBPB	chr7:99591817-99592156	IMR90	lung:	n/a	n/a
36	CEBPB	chr7:99601364-99601676	HepG2	liver:	n/a	n/a
37	CEBPB	chr7:99575708-99575800	K562	blood:	n/a	chr7:99575754-99575765
38	CEBPB	chr7:99596033-99596071	A549	lung:	n/a	n/a
39	CEBPB	chr7:99588642-99588743	K562	blood:	n/a	n/a
40	CEBPB	chr7:99601204-99601945	MCF-7	breast:	n/a	n/a
41	CEBPB	chr7:99575690-99575863	HepG2	liver:	n/a	chr7:99575754-99575765
42	CEBPB	chr7:99610331-99610599	K562	blood:	n/a	chr7:99610382-99610395
43	CEBPB	chr7:99595187-99595407	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr7:99601340-99601822	HepG2	liver:	n/a	n/a
45	CEBPB	chr7:99577572-99577727	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr7:99591828-99592134	K562	blood:	n/a	n/a
47	CEBPB	chr7:99610173-99610619	HepG2	liver:	n/a	chr7:99610382-99610395
48	CEBPB	chr7:99573782-99574101	HepG2	liver:	n/a	n/a
49	CEBPB	chr7:99575685-99575889	IMR90	lung:	n/a	chr7:99575754-99575765
50	CEBPB	chr7:99575694-99575894	A549	lung:	n/a	chr7:99575754-99575765

(count:1345 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99588561-99588611	LNCaP	prostate:	n/a
2	chr7:99595095-99595145	HEK293	kidney:	embryo
3	chr7:99588335-99588385	SK-N-SH	brain:	n/a
4	chr7:99588561-99588611	LNCaP	prostate:	n/a
5	chr7:99595095-99595145	HEK293	kidney:	embryo
6	chr7:99588335-99588385	SK-N-SH	brain:	n/a
7	chr7:99595437-99595487	HMEC	breast:	n/a
8	chr7:99595458-99595508	SKMC	muscle:	n/a
9	chr7:99587136-99587186	CMK	blood:	n/a
10	chr7:99588561-99588611	SK-N-SH_RA	brain:	n/a
11	chr7:99598775-99598825	T-47D	breast:	n/a
12	chr7:99591962-99592012	HNPCEpiC	eye:	n/a
13	chr7:99587136-99587186	IMR90	lung:	fetal
14	chr7:99574466-99574516	AG09319	gingival:	n/a
15	chr7:99595348-99595398	Caco-2	colon:	n/a
16	chr7:99574466-99574516	U87	brain:	n/a
17	chr7:99595276-99595326	HEK293	kidney:	embryo
18	chr7:99588335-99588385	Caco-2	colon:	n/a
19	chr7:99576547-99576597	LNCaP	prostate:	n/a
20	chr7:99591962-99592012	A549	lung:	n/a
21	chr7:99595437-99595487	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:99588561-99588611	AG10803	skin:	n/a
23	chr7:99574383-99574433	SAEC	small airway:	n/a
24	chr7:99576547-99576597	AG09319	gingival:	n/a
25	chr7:99576539-99576589	GM12891	blood:	n/a
26	chr7:99601692-99601742	HCF	heart:	n/a
27	chr7:99588657-99588707	NT2-D1	testis:	n/a
28	chr7:99587136-99587186	HRPEpiC	eye:	n/a
29	chr7:99576547-99576597	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:99588657-99588707	HCPEpiC	choroid plexus:	n/a
31	chr7:99588273-99588323	PFSK-1	brain:	n/a
32	chr7:99574420-99574470	HRPEpiC	eye:	n/a
33	chr7:99588273-99588323	AoSMC	blood vessel:	n/a
34	chr7:99588561-99588611	HEEpiC	esophagus:	n/a
35	chr7:99574420-99574470	SK-N-MC	brain:	n/a
36	chr7:99588657-99588707	Hepatocyte	liver:	n/a
37	chr7:99595437-99595487	GM19239	blood:	n/a
38	chr7:99595348-99595398	AG04449	skin:	fetal
39	chr7:99609831-99609881	AG04449	skin:	fetal
40	chr7:99588561-99588611	HCT-116	colon:	n/a
41	chr7:99595348-99595398	AoSMC	blood vessel:	n/a
42	chr7:99588657-99588707	A549	lung:	n/a
43	chr7:99573747-99573797	ovcar-3	ovarian:	n/a
44	chr7:99601692-99601742	BJ	skin:	n/a
45	chr7:99595437-99595487	ProgFib	skin:	n/a
46	chr7:99588273-99588323	HCF	heart:	n/a
47	chr7:99588273-99588323	LNCaP	prostate:	n/a
48	chr7:99574383-99574433	HCT-116	colon:	n/a
49	chr7:99595658-99595708	T-47D	breast:	n/a
50	chr7:99591962-99592012	SK-N-SH	brain:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:99592424..99598434-chr7:99598646..99605571,11	MCF-7	breast:
2	chr7:99577524..99578039-chr7:99588237..99589217,3	K562	blood:
3	chr7:99577726..99579955-chr7:100932141..100934760,2	MCF-7	breast:
4	chr7:99577974..99580142-chr7:99679417..99681794,2	MCF-7	breast:
5	chr7:99584391..99586095-chr7:99609489..99611371,2	K562	blood:
6	chr7:99601762..99603433-chr7:99603449..99606278,2	K562	blood:
7	chr7:99515716..99518824-chr7:99610446..99615072,4	K562	blood:
8	chr7:99598705..99603395-chr7:99611992..99615824,4	MCF-7	breast:
9	chr7:99600850..99603029-chr7:99645305..99648884,3	K562	blood:
10	chr7:99600154..99603008-chr7:99631964..99633761,2	MCF-7	breast:
11	chr7:99592424..99598434-chr7:99598646..99605571,11	MCF-7	breast:
12	chr7:99515843..99517674-chr7:99586833..99588501,2	MCF-7	breast:
13	chr7:99594172..99596915-chr7:99619216..99620782,2	K562	blood:
14	chr7:99515474..99518311-chr7:99585562..99587097,2	K562	blood:
15	chr7:99586340..99588249-chr7:99590043..99591844,2	K562	blood:
16	chr6:27857861..27860281-chr7:99604688..99606426,2	K562	blood:
17	chr7:99509274..99509946-chr7:99588276..99588980,2	MCF-7	breast:
18	chr7:99590918..99594546-chr7:99596737..99599787,3	K562	blood:
19	chr7:99601553..99605102-chr7:99669434..99672992,3	K562	blood:
20	chr7:99576315..99578805-chr7:99697574..99699659,2	MCF-7	breast:
21	chr7:99589288..99591810-chr7:99612834..99614804,4	MCF-7	breast:
22	chr7:99608355..99609979-chr7:99641023..99642646,2	MCF-7	breast:
23	chr7:99589618..99593496-chr7:99594204..99595870,4	K562	blood:
24	chr7:99580447..99585207-chr7:99587129..99590928,6	K562	blood:
25	chr7:99590547..99592612-chr7:99626360..99629032,2	K562	blood:
26	chr7:99603071..99604678-chr7:99629876..99631429,2	MCF-7	breast:
27	chr7:99591119..99593503-chr7:99676787..99678586,2	K562	blood:
28	chr7:99600014..99604498-chr7:99605032..99608017,4	MCF-7	breast:
29	chr7:99599411..99601548-chr7:99605711..99608652,3	MCF-7	breast:
30	chr7:99588651..99591308-chr7:99612703..99615208,2	K562	blood:
31	chr7:99510472..99511406-chr7:99588187..99589134,5	K562	blood:
32	chr7:99599411..99601548-chr7:99605711..99608652,3	MCF-7	breast:
33	chr7:99601356..99603407-chr7:99644840..99648336,3	MCF-7	breast:
34	chr7:99592003..99594227-chr7:99676787..99679509,2	K562	blood:
35	chr7:99587817..99590250-chr7:99755042..99756960,2	K562	blood:
36	chr7:99595238..99600680-chr7:99611222..99614830,6	K562	blood:
37	chr7:99591418..99594065-chr7:99611454..99615168,4	MCF-7	breast:
38	chr7:99510483..99511406-chr7:99588237..99589135,5	MCF-7	breast:
39	chr7:99524861..99526650-chr7:99605841..99607428,2	MCF-7	breast:
40	chr7:99591473..99592533-chr7:99642040..99642986,5	MCF-7	breast:
41	chr7:99600927..99603522-chr7:99678013..99680469,2	MCF-7	breast:
42	chr7:99601965..99606251-chr7:99612417..99615707,8	K562	blood:
43	chr7:99609246..99610753-chr7:99613622..99615389,2	MCF-7	breast:
44	chr7:99591337..99592929-chr7:99646894..99648865,2	MCF-7	breast:
45	chr7:99580447..99583544-chr7:99586500..99589317,4	K562	blood:
46	chr7:99604525..99607316-chr7:99612606..99614648,4	MCF-7	breast:
47	chr7:99588477..99590075-chr7:99697467..99699544,2	K562	blood:
48	chr7:99596955..99599021-chr7:99611222..99613919,2	K562	blood:
49	chr7:99510202..99510941-chr7:99588109..99589102,2	MCF-7	breast:
50	chr7:99587259..99592938-chr7:99645564..99652306,10	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZKSCAN1-1	chr7:99605669-99605945	XLOC_006188
2	lnc-ZKSCAN1-1	chr7:99606205-99606730	XLOC_006188
3	lnc-ZKSCAN1-1	chr7:99597123-99597186	XLOC_006188
4	lnc-ZKSCAN1-1	chr7:99597006-99597115	XLOC_006188
5	lnc-ZKSCAN1-1	chr7:99608999-99609249	XLOC_006188
6	lnc-ZKSCAN1-1	chr7:99594667-99594733	XLOC_006188
7	lnc-ZKSCAN1-2	chr7:99587971-99588326	expReg_chr7_6373_+
8	lnc-ZKSCAN1-1	chr7:99605931-99605945	XLOC_006188
9	lnc-ZKSCAN1-1	chr7:99605744-99605862	XLOC_006188
10	lnc-ZKSCAN1-1	chr7:99608999-99609239	XLOC_006188
11	lnc-ZKSCAN1-1	chr7:99608999-99609247	XLOC_006188
12	lnc-ZKSCAN1-1	chr7:99597002-99597115	XLOC_006188
13	lnc-ZKSCAN1-1	chr7:99595355-99595546	XLOC_006188
14	lnc-ZKSCAN1-1	chr7:99608999-99609247	XLOC_006188

No data

Variant related genes	Relation type
ZKSCAN1	TF binding region
ENSG00000235713	TF binding region
AZGP1	TF binding region
AZGP1P1	TF binding region
ZKSCAN1	CpG island
ENSG00000235713	CpG island
AZGP1	CpG island
AZGP1P1	CpG island
ENSG00000214252	chromatin interactions
ENSG00000166529	chromatin interactions
ENSG00000176402	chromatin interactions
ENSG00000146826	chromatin interactions
ENSG00000235077	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000235713	chromatin interactions
ENSG00000221838	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000146833	chromatin interactions
ENSG00000106261	chromatin interactions
ENSG00000237640	chromatin interactions
ENSG00000166526	chromatin interactions
ENSG00000160862	chromatin interactions
BRD1	miRNA target sites
C11orf82	miRNA target sites
TMEM45A	miRNA target sites
KCTD15	miRNA target sites
ARSJ	miRNA target sites
NUP153	miRNA target sites
ASCC2	miRNA target sites

Extended variants
information (count: 1519 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1519 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191375643	chr7:99573042-99573043	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182860475	chr7:99573066-99573067	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185703031	chr7:99573110-99573111	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544479903	chr7:99573121-99573122	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562920213	chr7:99573182-99573183	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs3020558	chr7:99573192-99573193	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs2906474	chr7:99573194-99573195	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190507875	chr7:99573200-99573201	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183143482	chr7:99573224-99573225	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546854201	chr7:99573225-99573226	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568241194	chr7:99573238-99573239	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs147748863	chr7:99573240-99573241	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73156698	chr7:99573259-99573260	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556943254	chr7:99573271-99573272	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568844833	chr7:99573279-99573280	Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539016713	chr7:99573280-99573281	Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188835997	chr7:99573293-99573294	Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572642239	chr7:99573306-99573307	Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs116277381	chr7:99573378-99573379	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555567951	chr7:99573380-99573381	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs573865367	chr7:99573383-99573384	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs79622998	chr7:99573386-99573387	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs544903724	chr7:99573394-99573395	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs562997655	chr7:99573403-99573404	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs192657207	chr7:99573405-99573406	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs545115069	chr7:99573451-99573452	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs371146081	chr7:99573460-99573461	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs560526093	chr7:99573476-99573477	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs113658894	chr7:99573481-99573482	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs75865305	chr7:99573485-99573486	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs527817270	chr7:99573491-99573492	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs549472314	chr7:99573492-99573493	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs561881591	chr7:99573506-99573507	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs373017718	chr7:99573552-99573553	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs377413029	chr7:99573553-99573554	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs76208463	chr7:99573589-99573590	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs182670735	chr7:99573592-99573593	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs151090185	chr7:99573628-99573629	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs139838304	chr7:99573643-99573644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs146937985	chr7:99573652-99573653	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs201913868	chr7:99573669-99573670	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs367636088	chr7:99573673-99573674	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs539710355	chr7:99573678-99573679	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs551124550	chr7:99573713-99573714	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs566108675	chr7:99573725-99573726	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs572102215	chr7:99573736-99573737	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs376093342	chr7:99573747-99573748	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs546222137	chr7:99573748-99573749	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs201134079	chr7:99573767-99573768	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs573904557	chr7:99573770-99573771	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:997 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99567800-99578000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:99571400-99573800	Active TSS	Liver	Liver
3	chr7:99572400-99573600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:99572400-99573600	Active TSS	Right Ventricle	heart
5	chr7:99572600-99573400	Active TSS	Adipose Nuclei	Adipose
6	chr7:99572600-99573800	Active TSS	Pancreas	Pancrea
7	chr7:99572800-99573800	Active TSS	HepG2	liver
8	chr7:99572800-99574000	Active TSS	Brain Substantia Nigra	brain
9	chr7:99572800-99574200	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:99573000-99573600	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:99573000-99573600	Active TSS	Left Ventricle	heart
12	chr7:99573000-99573800	Active TSS	Gastric	stomach
13	chr7:99573000-99574200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr7:99573400-99573800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr7:99573400-99573800	Active TSS	Brain Anterior Caudate	brain
16	chr7:99573400-99574200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:99573400-99574400	Enhancers	Fetal Intestine Small	intestine
18	chr7:99573400-99574600	Enhancers	Stomach Mucosa	stomach
19	chr7:99573600-99573800	Enhancers	Brain Hippocampus Middle	brain
20	chr7:99573600-99573800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:99573600-99573800	Enhancers	Left Ventricle	heart
22	chr7:99573600-99574000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:99573600-99574200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:99573800-99574000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr7:99573800-99574000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:99573800-99574000	Enhancers	Adipose Nuclei	Adipose
27	chr7:99573800-99574000	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr7:99573800-99574000	Flanking Active TSS	Gastric	stomach
29	chr7:99573800-99574000	Flanking Active TSS	Pancreas	Pancrea
30	chr7:99573800-99574000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr7:99573800-99574000	Enhancers	GM12878-XiMat	blood
32	chr7:99573800-99574200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:99573800-99574600	Enhancers	Duodenum Mucosa	Duodenum
34	chr7:99573800-99574600	Flanking Active TSS	HepG2	liver
35	chr7:99573800-99575000	Enhancers	Liver	Liver
36	chr7:99573800-99577200	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:99574000-99574200	Enhancers	Brain Anterior Caudate	brain
38	chr7:99574000-99574200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr7:99574000-99574400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:99574000-99574400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:99574000-99574600	Enhancers	Pancreas	Pancrea
42	chr7:99574200-99574800	Enhancers	Brain Substantia Nigra	brain
43	chr7:99574200-99577400	Weak transcription	Brain Anterior Caudate	brain
44	chr7:99574200-99577600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:99574200-99577600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:99574200-99577600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:99574400-99574600	Enhancers	Small Intestine	intestine
48	chr7:99574400-99578200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:99574600-99575200	Enhancers	HepG2	liver
50	chr7:99574600-99577200	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links