Variant report

Variant	rs7926862
Chromosome Location	chr11:62420870-62420871
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:604)
CpG islands
(count:61)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:62420800-62420950	BJ	skin:	n/a	n/a
2	HCFC1	chr11:62420498-62421080	K562	blood:	n/a	n/a
3	POLR2A	chr11:62420415-62421111	HCT-116	colon:	n/a	n/a
4	RELA	chr11:62420353-62421135	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:62420238-62421153	GM12878	blood:	n/a	n/a
6	FOSL2	chr11:62420511-62421139	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:62419745-62421321	K562	blood:	n/a	n/a
8	ETS1	chr11:62420623-62421003	A549	lung:	n/a	chr11:62420782-62420795
9	IRF4	chr11:62420556-62421098	GM12878	blood:	n/a	n/a
10	USF1	chr11:62420711-62420980	A549	lung:	n/a	n/a
11	CTCF	chr11:62420800-62420950	NHEK	skin:	n/a	n/a
12	POU2F2	chr11:62420504-62421126	GM12891	blood:	n/a	n/a
13	USF1	chr11:62420663-62421114	SK-N-SH	brain:	n/a	n/a
14	SP1	chr11:62420591-62421089	H1-hESC	embryonic stem cell:	n/a	n/a
15	GTF2F1	chr11:62420645-62421009	K562	blood:	n/a	n/a
16	NFIC	chr11:62420567-62421191	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:62420149-62421226	K562	blood:	n/a	n/a
18	MAX	chr11:62420531-62421085	H1-hESC	embryonic stem cell:	n/a	n/a
19	IRF1	chr11:62420534-62421080	K562	blood:	n/a	chr11:62420787-62420799
20	BCLAF1	chr11:62420363-62421168	GM12878	blood:	n/a	chr11:62420752-62420761
21	JUND	chr11:62420549-62421064	K562	blood:	n/a	n/a
22	RCOR1	chr11:62420672-62421044	K562	blood:	n/a	n/a
23	GABPA	chr11:62420585-62420991	HepG2	liver:	n/a	chr11:62420768-62420782 chr11:62420768-62420779 chr11:62420768-62420777 chr11:62420765-62420779 chr11:62420770-62420779
24	FOSL2	chr11:62420664-62421039	A549	lung:	n/a	n/a
25	RELA	chr11:62420620-62421034	GM19099	blood:	n/a	n/a
26	CTCF	chr11:62420741-62420898	Spleen_OC	spleen:	n/a	n/a
27	POLR2A	chr11:62419744-62421319	PFSK-1	brain:	n/a	n/a
28	EP300	chr11:62420534-62421082	HepG2	liver:	n/a	n/a
29	MAX	chr11:62420341-62421019	GM12878	blood:	n/a	n/a
30	YY1	chr11:62420362-62421106	HepG2	liver:	n/a	n/a
31	RFX5	chr11:62420671-62420995	HepG2	liver:	n/a	n/a
32	GABPA	chr11:62420686-62420960	GM12878	blood:	n/a	chr11:62420768-62420782 chr11:62420768-62420779 chr11:62420768-62420777 chr11:62420765-62420779 chr11:62420770-62420779
33	CBX3	chr11:62420594-62421177	K562	blood:	n/a	n/a
34	USF1	chr11:62420584-62421151	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr11:62420371-62421134	ProgFib	skin:	n/a	n/a
36	RAD21	chr11:62420591-62420992	Hela-S3	cervix:	n/a	n/a
37	EBF1	chr11:62420681-62420917	GM12878	blood:	n/a	n/a
38	SIX5	chr11:62420718-62420930	H1-hESC	embryonic stem cell:	n/a	n/a
39	GABPA	chr11:62420493-62421193	MCF-7	breast:	n/a	chr11:62420768-62420782 chr11:62420768-62420779 chr11:62420768-62420777 chr11:62420765-62420779 chr11:62420770-62420779
40	MAZ	chr11:62420562-62421032	K562	blood:	n/a	n/a
41	PBX3	chr11:62420556-62421068	A549	lung:	n/a	n/a
42	TCF7L2	chr11:62420648-62421076	HCT-116	colon:	n/a	n/a
43	TBP	chr11:62420470-62421139	K562	blood:	n/a	n/a
44	POLR2A	chr11:62420327-62421228	HUVEC	blood vessel:	n/a	n/a
45	ESR1	chr11:62420709-62421086	T-47D	breast:	n/a	n/a
46	FOXA2	chr11:62420502-62421303	A549	lung:	n/a	n/a
47	MAFF	chr11:62420692-62420987	HepG2	liver:	n/a	n/a
48	USF1	chr11:62420677-62421036	A549	lung:	n/a	n/a
49	PBX3	chr11:62420494-62421073	SK-N-SH	brain:	n/a	n/a
50	ATF2	chr11:62420510-62421073	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:62420836-62420886	HCF	heart:	n/a
2	chr11:62420836-62420886	GM19239	blood:	n/a
3	chr11:62420836-62420886	HRE	kidney:	n/a
4	chr11:62420836-62420886	HEEpiC	esophagus:	n/a
5	chr11:62420836-62420886	GM12878	blood:	n/a
6	chr11:62420836-62420886	NHDF-neo	bronchial:	n/a
7	chr11:62420836-62420886	Hepatocyte	liver:	n/a
8	chr11:62420836-62420886	ECC-1	luminal epithelium:	n/a
9	chr11:62420836-62420886	NH-A	brain:	n/a
10	chr11:62420836-62420886	AG04449	skin:	fetal
11	chr11:62420836-62420886	A549	lung:	n/a
12	chr11:62420836-62420886	CMK	blood:	n/a
13	chr11:62420836-62420886	NB4	blood:	n/a
14	chr11:62420836-62420886	AG04450	lung:	fetal
15	chr11:62420836-62420886	HCPEpiC	choroid plexus:	n/a
16	chr11:62420836-62420886	HIPEpiC	eye:	n/a
17	chr11:62420836-62420886	LNCaP	prostate:	n/a
18	chr11:62420836-62420886	BE2_C	brain:	n/a
19	chr11:62420836-62420886	SKMC	muscle:	n/a
20	chr11:62420836-62420886	MCF-7	breast:	n/a
21	chr11:62420836-62420886	H1-hESC	embryonic stem cell:	embryo
22	chr11:62420836-62420886	SK-N-SH_RA	brain:	n/a
23	chr11:62420836-62420886	HCM	heart:	n/a
24	chr11:62420836-62420886	HMEC	breast:	n/a
25	chr11:62420836-62420886	AG09319	gingival:	n/a
26	chr11:62420836-62420886	GM06990	blood:	n/a
27	chr11:62420836-62420886	GM12892	blood:	n/a
28	chr11:62420836-62420886	U87	brain:	n/a
29	chr11:62420836-62420886	MCF10A-Er-Src	breast:	n/a
30	chr11:62420836-62420886	T-47D	breast:	n/a
31	chr11:62420836-62420886	HCT-116	colon:	n/a
32	chr11:62420836-62420886	HUVEC	blood vessel:	n/a
33	chr11:62420836-62420886	SK-N-SH	brain:	n/a
34	chr11:62420836-62420886	AG10803	skin:	n/a
35	chr11:62420836-62420886	NHBE	bronchial:	n/a
36	chr11:62420836-62420886	Caco-2	colon:	n/a
37	chr11:62420836-62420886	HL-60	blood:	n/a
38	chr11:62420836-62420886	HEK293	kidney:	embryo
39	chr11:62420836-62420886	BJ	skin:	n/a
40	chr11:62420836-62420886	HAEpiC	amniotic membrane:	n/a
41	chr11:62420836-62420886	HepG2	liver:	n/a
42	chr11:62420836-62420886	PFSK-1	brain:	n/a
43	chr11:62420836-62420886	HRPEpiC	eye:	n/a
44	chr11:62420836-62420886	AG09309	skin:	n/a
45	chr11:62420836-62420886	ProgFib	skin:	n/a
46	chr11:62420836-62420886	ovcar-3	ovarian:	n/a
47	chr11:62420836-62420886	GM12891	blood:	n/a
48	chr11:62420836-62420886	SAEC	small airway:	n/a
49	chr11:62420836-62420886	HRCEpiC	kidney:	n/a
50	chr11:62420836-62420886	PrEC	prostate:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:62364982..62366719-chr11:62418980..62421459,2	K562	blood:
2	chr11:62420577..62421114-chr14:93259943..93260756,2	Hela-S3	cervix:
3	chr11:62388979..62391312-chr11:62419265..62422205,4	MCF-7	breast:
4	chr11:62420186..62421987-chr11:62606854..62608382,2	MCF-7	breast:
5	chr11:62375128..62377182-chr11:62419132..62421810,2	MCF-7	breast:
6	chr11:62419108..62423185-chr11:62455731..62458906,3	MCF-7	breast:
7	chr11:62338925..62342513-chr11:62419437..62422643,3	K562	blood:
8	chr11:62356304..62360795-chr11:62418738..62422684,8	MCF-7	breast:
9	chr11:62419246..62422035-chr11:62495091..62497518,2	MCF-7	breast:
10	chr11:62394057..62395888-chr11:62419327..62420896,2	MCF-7	breast:
11	chr11:62367785..62371189-chr11:62419322..62422312,3	K562	blood:
12	chr11:62366402..62370002-chr11:62419166..62421218,5	MCF-7	breast:
13	chr11:62370075..62372268-chr11:62419892..62421743,2	MCF-7	breast:
14	chr11:62419996..62421515-chr11:62472614..62475096,2	K562	blood:
15	chr11:62358293..62360645-chr11:62418565..62421912,5	MCF-7	breast:
16	chr11:62420289..62421031-chr20:30194556..30195379,2	Hela-S3	cervix:
17	chr11:62399823..62402550-chr11:62420078..62421660,2	K562	blood:
18	chr11:62378061..62382695-chr11:62418790..62422319,4	MCF-7	breast:
19	chr11:62420134..62421027-chr19:12902155..12902659,2	HCT-116	colon:
20	chr11:62418456..62420946-chr11:62519270..62521680,2	MCF-7	breast:
21	chr11:62419496..62422336-chr11:62607048..62609555,3	MCF-7	breast:
22	chr11:62387048..62391177-chr11:62418783..62422273,6	K562	blood:
23	chr11:62420302..62421077-chr21:44299751..44300309,2	NB4	blood:
24	chr11:62404626..62407242-chr11:62418752..62422321,4	MCF-7	breast:
25	chr11:62420576..62421322-chr11:62432613..62433383,2	NB4	blood:
26	chr11:62420365..62421322-chr12:122150183..122150817,2	NB4	blood:
27	chr11:62359035..62362581-chr11:62419336..62421874,4	K562	blood:
28	chr11:62419322..62423908-chr11:62471994..62474725,4	K562	blood:
29	chr11:62420244..62422280-chr11:62621824..62623365,2	K562	blood:
30	chr11:62419224..62422208-chr11:62494410..62497267,2	MCF-7	breast:
31	chr11:62420856..62423273-chr11:62494046..62495574,2	K562	blood:
32	chr11:62420159..62420929-chr15:34659289..34659854,2	Hela-S3	cervix:
33	chr1:148241349..148242009-chr11:62420536..62421063,2	Hela-S3	cervix:
34	chr1:173793195..173794077-chr11:62420394..62421024,2	Hela-S3	cervix:
35	chr11:62420499..62421053-chr17:74732690..74733488,2	Hela-S3	cervix:
36	chr11:62340724..62342513-chr11:62420089..62422291,2	K562	blood:
37	chr11:62377568..62383566-chr11:62416977..62422354,8	K562	blood:
38	chr11:62399751..62401566-chr11:62420575..62422317,2	MCF-7	breast:
39	chr11:62420315..62420997-chr16:67207579..67208504,2	Hela-S3	cervix:
40	chr11:62420315..62421118-chr3:49395431..49396391,2	NB4	blood:
41	chr11:62387284..62391214-chr11:62416794..62420991,4	K562	blood:
42	chr11:62378832..62381851-chr11:62418002..62421701,6	K562	blood:
43	chr11:62379585..62382197-chr11:62420262..62422410,4	MCF-7	breast:
44	chr11:62406204..62408015-chr11:62420422..62422888,2	K562	blood:
45	chr11:62420312..62421283-chr11:104838756..104839379,2	Hela-S3	cervix:
46	chr11:62382884..62384970-chr11:62420663..62423261,3	MCF-7	breast:
47	chr11:62339002..62343622-chr11:62418020..62422333,5	MCF-7	breast:
48	chr11:62416571..62422086-chr11:62473445..62479277,7	MCF-7	breast:
49	chr11:62387534..62391195-chr11:62419340..62423776,5	MCF-7	breast:
50	chr11:62420432..62420932-chr12:44152784..44153366,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
INTS5	TF binding region
INTS5	CpG island
ENSG00000149016	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000160194	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000233276	Chromatin interaction
ENSG00000066455	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000207501	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000140939	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000092931	Chromatin interaction
ENSG00000198001	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000196954	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000161547	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000177363	Chromatin interaction
ENSG00000168000	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17157390	1.00[AMR][1000 genomes]
rs17157391	1.00[AMR][1000 genomes]
rs61745121	1.00[AMR][1000 genomes]
rs739793	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62419400-62421200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:62419600-62421200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:62419600-62421200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:62419600-62421200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:62419600-62421200	Active TSS	HSMM	muscle
6	chr11:62419600-62421400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:62419600-62421400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:62419600-62421400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr11:62419600-62421400	Active TSS	K562	blood
10	chr11:62419600-62421600	Active TSS	GM12878-XiMat	blood
11	chr11:62419800-62421000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:62419800-62421200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:62419800-62421200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:62419800-62421200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:62419800-62421200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr11:62419800-62421200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:62419800-62421200	Flanking Active TSS	Fetal Brain Male	brain
18	chr11:62419800-62421200	Active TSS	Lung	lung
19	chr11:62419800-62421200	Active TSS	HSMMtube	muscle
20	chr11:62419800-62421400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:62419800-62421400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:62419800-62421400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr11:62419800-62421400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:62419800-62421400	Active TSS	Psoas Muscle	Psoas
25	chr11:62419800-62421600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:62420000-62421000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:62420000-62421200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:62420000-62421200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:62420000-62421200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:62420000-62421200	Active TSS	Esophagus	oesophagus
31	chr11:62420000-62421200	Active TSS	Left Ventricle	heart
32	chr11:62420000-62421200	Active TSS	Ovary	ovary
33	chr11:62420000-62421400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:62420000-62421400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:62420000-62421400	Active TSS	Right Ventricle	heart
36	chr11:62420200-62421000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:62420200-62421000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:62420200-62421200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr11:62420200-62421200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:62420200-62421200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:62420200-62421200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:62420200-62421200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:62420200-62421200	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr11:62420200-62421200	Active TSS	Fetal Lung	lung
45	chr11:62420200-62421200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr11:62420200-62421200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr11:62420200-62421200	Active TSS	Stomach Mucosa	stomach
48	chr11:62420200-62421200	Active TSS	Spleen	Spleen
49	chr11:62420200-62421200	Active TSS	HMEC	breast
50	chr11:62420200-62421200	Active TSS	NHDF-Ad	bronchial

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