Variant report

Variant	rs7943121
Chromosome Location	chr11:18656062-18656063
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:506)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:18655889-18656189	GM12878	blood:	n/a	n/a
2	MAFF	chr11:18655902-18656592	HepG2	liver:	n/a	chr11:18656403-18656421
3	BACH1	chr11:18655719-18656779	K562	blood:	n/a	n/a
4	EGR1	chr11:18655709-18656270	GM12878	blood:	n/a	chr11:18655933-18655942 chr11:18655961-18655974 chr11:18655903-18655917
5	POLR2A	chr11:18654745-18656706	GM12878	blood:	n/a	n/a
6	MAX	chr11:18655688-18656702	A549	lung:	n/a	n/a
7	CEBPB	chr11:18655913-18656124	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr11:18655753-18656624	K562	blood:	n/a	chr11:18655960-18655969 chr11:18656361-18656370 chr11:18655812-18655824
9	MAFK	chr11:18655743-18656757	K562	blood:	n/a	chr11:18656404-18656419 chr11:18655963-18655978
10	GABPA	chr11:18655539-18656477	MCF-7	breast:	n/a	chr11:18656360-18656371 chr11:18656030-18656037 chr11:18656357-18656371 chr11:18656360-18656369 chr11:18656360-18656374
11	POLR2A	chr11:18655703-18656563	H1-hESC	embryonic stem cell:	n/a	n/a
12	GTF2F1	chr11:18655754-18656559	K562	blood:	n/a	n/a
13	MXI1	chr11:18655560-18656643	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:18655575-18656576	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr11:18655488-18656691	HepG2	liver:	n/a	n/a
16	PAX5	chr11:18655809-18656209	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:18655493-18656679	PFSK-1	brain:	n/a	n/a
18	ZBTB33	chr11:18655720-18656121	GM12878	blood:	n/a	n/a
19	BHLHE40	chr11:18655684-18656816	GM12878	blood:	n/a	n/a
20	MAX	chr11:18655730-18656704	H1-hESC	embryonic stem cell:	n/a	n/a
21	CCNT2	chr11:18655746-18656660	K562	blood:	n/a	n/a
22	POLR2A	chr11:18655698-18656613	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr11:18655350-18656748	A549	lung:	n/a	chr11:18656004-18656011
24	FOXA2	chr11:18655386-18656118	A549	lung:	n/a	n/a
25	TAF1	chr11:18655651-18656596	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:18655546-18656591	PANC-1	pancreas:	n/a	n/a
27	TAF7	chr11:18655689-18656312	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr11:18655690-18656176	GM12878	blood:	n/a	n/a
29	CEBPD	chr11:18655783-18656228	HepG2	liver:	n/a	n/a
30	MXI1	chr11:18654762-18656649	GM12878	blood:	n/a	n/a
31	TBP	chr11:18655651-18656669	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:18655507-18656818	U87	brain:	n/a	n/a
33	SRF	chr11:18655835-18656078	K562	blood:	n/a	n/a
34	SIN3AK20	chr11:18655377-18656496	K562	blood:	n/a	n/a
35	TBP	chr11:18655689-18656731	Hela-S3	cervix:	n/a	n/a
36	RELA	chr11:18654734-18656621	GM19099	blood:	n/a	n/a
37	POLR2A	chr11:18654992-18656683	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:18655311-18656720	PBDE	blood:	n/a	n/a
39	MAX	chr11:18655683-18656811	MCF-7	breast:	n/a	n/a
40	EP300	chr11:18655524-18656621	GM12878	blood:	n/a	chr11:18656284-18656293 chr11:18655934-18655941 chr11:18655612-18655621
41	POLR2A	chr11:18654730-18656759	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:18655554-18656610	Gliobla	brain:	n/a	n/a
43	POLR2A	chr11:18655593-18656624	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:18655642-18656814	K562	blood:	n/a	n/a
45	RFX5	chr11:18655692-18656618	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:18655392-18656556	K562	blood:	n/a	n/a
47	POLR2A	chr11:18655581-18656741	HUVEC	blood vessel:	n/a	n/a
48	NR2F2	chr11:18655466-18656837	K562	blood:	n/a	n/a
49	MTA3	chr11:18654682-18656932	GM12878	blood:	n/a	n/a
50	CREB1	chr11:18655576-18656496	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18655624..18656520-chr12:132674198..132674922,2	Hela-S3	cervix:
2	chr11:18655862..18656795-chr7:5569809..5570683,4	Hela-S3	cervix:
3	chr11:18415166..18418061-chr11:18653248..18658001,5	K562	blood:
4	chr11:18608840..18612225-chr11:18653403..18657833,8	MCF-7	breast:
5	chr1:22378891..22379644-chr11:18655905..18656561,2	Hela-S3	cervix:
6	chr11:18655423..18656330-chr6:91296628..91297299,2	HCT-116	colon:
7	chr11:18655484..18656242-chr12:46662078..46662931,2	Hela-S3	cervix:
8	chr11:18655477..18656161-chr8:145747888..145748475,2	Hela-S3	cervix:
9	chr11:18555936..18558894-chr11:18654308..18656138,2	K562	blood:
10	chr11:18655477..18656355-chr17:7387513..7388426,2	Hela-S3	cervix:
11	chr11:18546581..18551368-chr11:18654825..18657467,6	K562	blood:
12	chr11:18546372..18549758-chr11:18653531..18658575,7	K562	blood:
13	chr11:18609259..18612621-chr11:18654534..18657923,6	MCF-7	breast:
14	chr11:18655521..18656516-chr4:109683397..109684147,2	Hela-S3	cervix:
15	chr1:46152228..46153101-chr11:18655414..18656371,2	Hela-S3	cervix:
16	chr1:156697741..156698617-chr11:18655732..18656309,2	Hela-S3	cervix:
17	chr11:8986117..8986822-chr11:18655942..18656571,2	Hela-S3	cervix:
18	chr11:18655371..18656340-chr9:86595063..86595728,2	NB4	blood:
19	chr11:18655737..18658361-chr11:18720798..18722992,3	MCF-7	breast:
20	chr11:18656015..18656646-chr6:136610447..136611108,2	Hela-S3	cervix:
21	chr11:18655522..18656332-chr5:60627731..60628504,2	Hela-S3	cervix:
22	chr11:18654961..18657619-chr8:56985621..56988332,2	K562	blood:
23	chr1:144533841..144534488-chr11:18655915..18656618,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SPTY2D1	TF binding region
ENSG00000178966	Chromatin interaction
ENSG00000256312	Chromatin interaction
ENSG00000070831	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000029363	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000253603	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000160959	Chromatin interaction
ENSG00000256576	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000008988	Chromatin interaction
ENSG00000143319	Chromatin interaction
ENSG00000130449	Chromatin interaction
ENSG00000143303	Chromatin interaction
ENSG00000164089	Chromatin interaction
ENSG00000135341	Chromatin interaction
ENSG00000238650	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000151117	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10128711	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10500834	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832950	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832954	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832956	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832961	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024735	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024737	1.00[YRI][hapmap]
rs11024739	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024743	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12365747	1.00[YRI][hapmap]
rs2084220	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2166519	1.00[YRI][hapmap]
rs2896537	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4237722	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4757676	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4757678	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr11:18654200-18657000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:18654400-18656400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:18654400-18656400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:18654400-18656600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:18654400-18656600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:18654400-18656600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:18654400-18656600	Active TSS	NHDF-Ad	bronchial
8	chr11:18654400-18656600	Active TSS	NHLF	lung
9	chr11:18654400-18657000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:18654400-18657400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:18654600-18656400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:18654600-18656400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:18654600-18656400	Active TSS	GM12878-XiMat	blood
14	chr11:18654600-18656400	Active TSS	K562	blood
15	chr11:18654600-18656600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:18654600-18656600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:18654600-18656600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:18654600-18656600	Active TSS	A549	lung
19	chr11:18654600-18656800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:18654800-18656400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:18654800-18656400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr11:18654800-18656400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:18654800-18656400	Active TSS	Fetal Muscle Trunk	muscle
24	chr11:18654800-18656600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr11:18654800-18656600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:18654800-18656600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:18654800-18656600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:18654800-18656600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:18654800-18656600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:18654800-18656600	Active TSS	Fetal Heart	heart
31	chr11:18654800-18656600	Active TSS	Lung	lung
32	chr11:18654800-18656600	Active TSS	Right Atrium	heart
33	chr11:18654800-18656800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:18654800-18656800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:18654800-18656800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:18655000-18656400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:18655000-18656400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:18655000-18656400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:18655000-18656400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:18655000-18656400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:18655000-18656400	Active TSS	Fetal Intestine Large	intestine
42	chr11:18655000-18656400	Active TSS	Pancreas	Pancrea
43	chr11:18655000-18656400	Active TSS	HSMM	muscle
44	chr11:18655000-18656600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:18655000-18656600	Active TSS	Colonic Mucosa	Colon
46	chr11:18655000-18656600	Active TSS	Fetal Stomach	stomach
47	chr11:18655000-18656600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr11:18655000-18656600	Active TSS	Small Intestine	intestine
49	chr11:18655000-18656800	Active TSS	Aorta	Aorta
50	chr11:18655000-18656800	Active TSS	Left Ventricle	heart

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