Variant report

Variant	rs635663
Chromosome Location	chr11:57509429-57509430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:57508530-57509713	GM12878	blood:	n/a	n/a
2	RUNX3	chr11:57508413-57509885	GM12878	blood:	n/a	n/a
3	RAD21	chr11:57509296-57509438	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBL1XR1	chr11:57508535-57510128	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:57508021-57510583	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:57507517-57510599	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:57508478-57509516	A549	lung:	n/a	n/a
8	MXI1	chr11:57509369-57509603	K562	blood:	n/a	n/a
9	ZKSCAN1	chr11:57508577-57509429	Hela-S3	cervix:	n/a	n/a
10	TAF1	chr11:57509272-57509517	GM12892	blood:	n/a	n/a
11	CEBPB	chr11:57508532-57509460	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:57508505-57509590	GM10847	blood:	n/a	n/a
13	POLR2A	chr11:57507479-57513053	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:57508272-57509707	K562	blood:	n/a	n/a
15	RFX5	chr11:57508406-57509680	Hela-S3	cervix:	n/a	chr11:57508652-57508666 chr11:57508655-57508664
16	TAF1	chr11:57509227-57509588	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:57507778-57509843	PFSK-1	brain:	n/a	n/a
18	TAF1	chr11:57508479-57509588	K562	blood:	n/a	n/a
19	CTCF	chr11:57509360-57509510	HPAF	blood vessel:	n/a	n/a
20	BACH1	chr11:57509249-57509492	K562	blood:	n/a	n/a
21	RCOR1	chr11:57508598-57509602	Hela-S3	cervix:	n/a	n/a
22	NFATC1	chr11:57508406-57509720	GM12878	blood:	n/a	n/a
23	MAX	chr11:57508387-57509514	HCT-116	colon:	n/a	chr11:57508901-57508910 chr11:57508901-57508910 chr11:57508901-57508910 chr11:57508900-57508911 chr11:57508900-57508911 chr11:57508900-57508910 chr11:57508901-57508911
24	ZNF143	chr11:57508630-57509443	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:57508297-57509561	K562	blood:	n/a	n/a
26	FOXM1	chr11:57508361-57509884	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:57508412-57509689	H1-neurons	neurons:	n/a	n/a
28	ATF2	chr11:57508379-57509779	GM12878	blood:	n/a	n/a
29	TAF1	chr11:57508499-57509576	GM12878	blood:	n/a	n/a
30	PML	chr11:57508444-57509579	GM12878	blood:	n/a	n/a
31	MAZ	chr11:57508536-57509742	GM12878	blood:	n/a	chr11:57508901-57508910 chr11:57508901-57508910 chr11:57508901-57508910 chr11:57508900-57508911 chr11:57508900-57508911 chr11:57508900-57508910 chr11:57508901-57508911
32	MTA3	chr11:57508253-57510200	GM12878	blood:	n/a	n/a
33	MEF2C	chr11:57508534-57509767	GM12878	blood:	n/a	chr11:57509493-57509514
34	POLR2A	chr11:57508530-57509775	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr11:57507456-57509881	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr11:57508503-57509558	H1-hESC	embryonic stem cell:	n/a	n/a
37	SMARCB1	chr11:57508580-57509894	Hela-S3	cervix:	n/a	n/a
38	EP300	chr11:57509378-57509913	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:57508303-57509716	HL-60	blood:	n/a	n/a
40	STAT1	chr11:57508374-57509568	GM12878	blood:	n/a	chr11:57508924-57508935
41	POLR2A	chr11:57508331-57509477	HUVEC	blood vessel:	n/a	n/a
42	TAF1	chr11:57508434-57509611	GM12878	blood:	n/a	n/a
43	ZNF263	chr11:57508542-57509515	HEK293-T-REx	kidney:	n/a	n/a
44	ELF1	chr11:57508498-57509619	GM12878	blood:	n/a	n/a
45	YY1	chr11:57508557-57509619	GM12891	blood:	n/a	chr11:57509229-57509243
46	POLR2A	chr11:57508340-57509888	PANC-1	pancreas:	n/a	n/a
47	MAX	chr11:57508384-57509726	A549	lung:	n/a	chr11:57508901-57508910 chr11:57508901-57508910 chr11:57508901-57508910 chr11:57508900-57508911 chr11:57508900-57508911 chr11:57508900-57508910 chr11:57508901-57508911
48	MAX	chr11:57508531-57509637	Hela-S3	cervix:	n/a	chr11:57508901-57508910 chr11:57508901-57508910 chr11:57508901-57508910 chr11:57508900-57508911 chr11:57508900-57508911 chr11:57508900-57508910 chr11:57508901-57508911
49	POLR2A	chr11:57508474-57509623	MCF-7	breast:	n/a	n/a
50	POLR2A	chr11:57508401-57509815	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57508432..57511977-chr11:57530270..57533342,3	MCF-7	breast:
2	chr11:57440494..57443306-chr11:57507739..57511429,4	K562	blood:
3	chr11:57507833..57511012-chr11:57515890..57519512,4	MCF-7	breast:
4	chr11:57508174..57510185-chr11:57528141..57530575,2	K562	blood:
5	chr11:57508925..57509441-chr7:75508132..75508870,2	Hela-S3	cervix:
6	chr11:57478095..57482223-chr11:57507421..57512003,5	K562	blood:
7	chr11:57508102..57510467-chr11:57518136..57520066,2	MCF-7	breast:
8	chr11:57508684..57509553-chr9:35748726..35749286,2	Hela-S3	cervix:
9	chr11:57434008..57435608-chr11:57507270..57509557,2	MCF-7	breast:
10	chr11:57478095..57481312-chr11:57507421..57511942,8	K562	blood:
11	chr11:57431371..57436913-chr11:57505728..57511660,10	K562	blood:
12	chr11:57478057..57480948-chr11:57506438..57510938,4	MCF-7	breast:
13	chr11:57508686..57513679-chr11:57564628..57569734,7	K562	blood:
14	chr11:57508369..57511140-chr11:57577565..57580322,2	MCF-7	breast:
15	chr11:57423749..57426682-chr11:57508630..57510179,2	K562	blood:
16	chr11:57434290..57436913-chr11:57507221..57510395,5	K562	blood:
17	chr11:57508846..57511581-chr11:57547881..57549731,2	K562	blood:
18	chr11:57104191..57107029-chr11:57508169..57510390,2	MCF-7	breast:
19	chr11:57507427..57512619-chr11:57528805..57534217,7	K562	blood:
20	chr11:57508922..57509774-chr5:61708521..61709172,2	Hela-S3	cervix:
21	chr11:57439534..57442360-chr11:57509028..57511429,2	K562	blood:
22	chr11:57478353..57481972-chr11:57506953..57510365,5	MCF-7	breast:
23	chr1:38325173..38325945-chr11:57508684..57509664,2	Hela-S3	cervix:
24	chr11:57508825..57509823-chr5:41904248..41904792,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000254732	TF binding region
ENSG00000188786	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000005486	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000107185	Chromatin interaction
ENSG00000070610	Chromatin interaction
ENSG00000086200	Chromatin interaction
ENSG00000205765	Chromatin interaction
ENSG00000109991	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000233436	Chromatin interaction
ENSG00000213593	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10444364	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10736687	1.00[CHB][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10750868	1.00[CHB][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10896643	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12284427	1.00[AMR][1000 genomes]
rs1313360	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1553827	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1798174	1.00[ASN][1000 genomes]
rs1939322	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2860261	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34430954	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs474073	1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs474464	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs505995	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs523739	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs529838	1.00[CHB][hapmap];0.96[YRI][hapmap]
rs542777	1.00[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs552122	1.00[CHB][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs554140	1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs557051	1.00[CHB][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55786036	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55838210	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56879142	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57759830	1.00[ASN][1000 genomes]
rs58176671	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs585190	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58851976	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59046396	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60076210	1.00[ASN][1000 genomes]
rs60282001	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60897155	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61444907	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61638601	1.00[ASN][1000 genomes]
rs61743110	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs627861	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs637116	0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs648412	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103407	1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103768	1.00[ASN][1000 genomes]
rs7110490	1.00[ASN][1000 genomes]
rs7112557	1.00[ASN][1000 genomes]
rs7118249	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7118308	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7122105	0.87[AMR][1000 genomes]
rs7131175	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73472468	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474417	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474449	1.00[ASN][1000 genomes]
rs73474453	1.00[ASN][1000 genomes]
rs73474454	1.00[ASN][1000 genomes]
rs73474455	1.00[ASN][1000 genomes]
rs73482748	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482786	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482796	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482801	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7928666	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7938752	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs947940	1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[ASN][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	58 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	chr11:57508200-57509600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:57508200-57509600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:57508200-57509600	Active TSS	Brain Germinal Matrix	brain
4	chr11:57508200-57509600	Active TSS	Fetal Brain Female	brain
5	chr11:57508200-57509600	Active TSS	Fetal Muscle Trunk	muscle
6	chr11:57508200-57509600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:57508200-57509600	Active TSS	Stomach Smooth Muscle	stomach
8	chr11:57508200-57509800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:57508200-57509800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:57508200-57509800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:57508200-57509800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:57508200-57509800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:57508200-57509800	Active TSS	Fetal Kidney	kidney
14	chr11:57508200-57510000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:57508200-57510000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:57508200-57510000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:57508200-57510000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:57508200-57510000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:57508200-57510000	Active TSS	Psoas Muscle	Psoas
20	chr11:57508200-57510000	Active TSS	NHDF-Ad	bronchial
21	chr11:57508200-57510600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:57508400-57509600	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:57508400-57509600	Active TSS	Colonic Mucosa	Colon
24	chr11:57508400-57509600	Active TSS	Esophagus	oesophagus
25	chr11:57508400-57509600	Active TSS	Pancreas	Pancrea
26	chr11:57508400-57509600	Active TSS	Placenta Amnion	Placenta Amnion
27	chr11:57508400-57509600	Active TSS	Right Ventricle	heart
28	chr11:57508400-57509800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr11:57508400-57509800	Active TSS	Aorta	Aorta
30	chr11:57508400-57509800	Active TSS	Fetal Lung	lung
31	chr11:57508400-57509800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr11:57508400-57509800	Active TSS	Small Intestine	intestine
33	chr11:57508400-57509800	Active TSS	HepG2	liver
34	chr11:57508400-57509800	Active TSS	HSMM	muscle
35	chr11:57508400-57510000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:57508400-57510000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:57508400-57510000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:57508400-57510000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:57508400-57510000	Active TSS	Fetal Intestine Small	intestine
40	chr11:57508400-57510000	Active TSS	Left Ventricle	heart
41	chr11:57508400-57510000	Active TSS	Lung	lung
42	chr11:57508400-57510000	Active TSS	Ovary	ovary
43	chr11:57508400-57510200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr11:57508400-57510200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:57508400-57510200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:57508400-57510200	Active TSS	NHLF	lung
47	chr11:57508400-57510400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:57508400-57510400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:57508600-57509600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:57508600-57509600	Active TSS	Primary T cells from cord blood	blood

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