Variant report

Variant	rs7938523
Chromosome Location	chr11:75237411-75237412
allele	C/T
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	ZBTB7A	chr11:75235995-75237680	ECC-1	luminal epithelium:	n/a	chr11:75236136-75236145
2	HCFC1	chr11:75236214-75237809	Hela-S3	cervix:	n/a	n/a
3	TAF1	chr11:75236465-75237526	HepG2	liver:	n/a	n/a
4	YY1	chr11:75236795-75237416	SK-N-SH_RA	brain:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
5	ELF1	chr11:75236548-75237546	GM12878	blood:	n/a	n/a
6	TCF12	chr11:75236607-75237461	ECC-1	luminal epithelium:	n/a	chr11:75237217-75237224
7	ZBTB7A	chr11:75237154-75237462	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:75236675-75237454	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:75236712-75237422	K562	blood:	n/a	n/a
10	POLR2A	chr11:75236962-75237411	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:75236713-75237450	GM19099	blood:	n/a	n/a
12	POLR2A	chr11:75236766-75237450	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:75235488-75237551	H1-neurons	neurons:	n/a	n/a
14	YY1	chr11:75236763-75237482	ECC-1	luminal epithelium:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
15	POLR2A	chr11:75236233-75237681	HepG2	liver:	n/a	n/a
16	MAZ	chr11:75235215-75237619	IMR90	lung:	n/a	chr11:75237121-75237130 chr11:75236506-75236516 chr11:75237195-75237205
17	RCOR1	chr11:75237405-75237446	K562	blood:	n/a	n/a
18	POLR2A	chr11:75236705-75237428	GM19193	blood:	n/a	n/a
19	POLR2A	chr11:75236600-75237737	K562	blood:	n/a	n/a
20	MXI1	chr11:75236176-75237565	IMR90	lung:	n/a	n/a
21	SMARCB1	chr11:75235700-75237826	Hela-S3	cervix:	n/a	chr11:75235810-75235819
22	GABPA	chr11:75236793-75237569	K562	blood:	n/a	n/a
23	POLR2A	chr11:75236577-75237508	K562	blood:	n/a	n/a
24	YY1	chr11:75236495-75237541	K562	blood:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
25	MAX	chr11:75236801-75237438	ECC-1	luminal epithelium:	n/a	chr11:75237121-75237130 chr11:75237195-75237205
26	POLR2A	chr11:75236777-75237422	ECC-1	luminal epithelium:	n/a	n/a
27	ZBTB7A	chr11:75236068-75237548	K562	blood:	n/a	chr11:75236136-75236145
28	YY1	chr11:75236789-75237524	H1-hESC	embryonic stem cell:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
29	POLR2A	chr11:75236687-75237423	NB4	blood:	n/a	n/a
30	POLR2A	chr11:75236652-75237427	GM18951	blood:	n/a	n/a
31	POLR2A	chr11:75236641-75237573	HUVEC	blood vessel:	n/a	n/a
32	YY1	chr11:75236666-75237473	GM12892	blood:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
33	PML	chr11:75236703-75237421	K562	blood:	n/a	n/a
34	MAX	chr11:75236723-75237474	ECC-1	luminal epithelium:	n/a	chr11:75237121-75237130 chr11:75237195-75237205
35	MAZ	chr11:75236726-75237566	GM12878	blood:	n/a	chr11:75237121-75237130 chr11:75237195-75237205
36	POLR2A	chr11:75236713-75237433	K562	blood:	n/a	n/a
37	POLR2A	chr11:75236744-75237496	PFSK-1	brain:	n/a	n/a
38	YY1	chr11:75236899-75237440	H1-hESC	embryonic stem cell:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
39	ETS1	chr11:75236698-75237522	K562	blood:	n/a	chr11:75236726-75236739
40	POLR2A	chr11:75236759-75237434	HEK293	kidney:	n/a	n/a
41	SMC3	chr11:75236376-75237954	SK-N-SH	brain:	n/a	n/a
42	YY1	chr11:75236816-75237508	A549	lung:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
43	YY1	chr11:75236562-75237478	HepG2	liver:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
44	ELF1	chr11:75236684-75237568	K562	blood:	n/a	n/a
45	MAX	chr11:75236317-75237512	A549	lung:	n/a	chr11:75237121-75237130 chr11:75236506-75236516 chr11:75237195-75237205
46	POLR2A	chr11:75236564-75237437	HUVEC	blood vessel:	n/a	n/a
47	E2F6	chr11:75236697-75237447	A549	lung:	n/a	n/a
48	ZBTB7A	chr11:75235690-75237760	ECC-1	luminal epithelium:	n/a	chr11:75236136-75236145 chr11:75237745-75237752
49	BACH1	chr11:75236851-75237503	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:75236679-75237427	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75218923..75220446-chr11:75235371..75237646,2	K562	blood:
2	chr11:75108861..75111951-chr11:75234433..75238212,4	K562	blood:
3	chr11:75157273..75157790-chr11:75236951..75237454,2	MCF-7	breast:
4	chr11:75189541..75191420-chr11:75235512..75237815,2	K562	blood:
5	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:
6	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
7	chr11:75237299..75240439-chr11:75240867..75243986,5	MCF-7	breast:
8	chr11:75189920..75194162-chr11:75235512..75239199,3	K562	blood:
9	chr11:75162095..75164647-chr11:75235506..75237767,3	MCF-7	breast:
10	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000158555	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000254460	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000149243	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10899091	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10899092	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11236448	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236449	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236452	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11236454	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12291026	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12361128	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12362081	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12362890	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1783551	0.87[EUR][1000 genomes]
rs55702115	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56232370	0.85[EUR][1000 genomes]
rs618202	0.88[EUR][1000 genomes]
rs662358	0.88[EUR][1000 genomes]
rs7109103	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7110149	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7128888	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7129014	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7129150	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72989929	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72989989	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs947844	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	esv3371732	chr11:75235729-75238277	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75235200-75237600	Active TSS	Brain Hippocampus Middle	brain
2	chr11:75235200-75237800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:75235200-75237800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:75235400-75238000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr11:75235600-75237800	Active TSS	Right Atrium	heart
6	chr11:75235600-75238000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:75235800-75237600	Active TSS	Brain Substantia Nigra	brain
8	chr11:75235800-75237600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:75235800-75237600	Active TSS	HSMMtube	muscle
10	chr11:75236000-75237600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:75236000-75237600	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr11:75236000-75237600	Active TSS	Brain Angular Gyrus	brain
13	chr11:75236000-75237600	Active TSS	NHDF-Ad	bronchial
14	chr11:75236000-75237800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr11:75236000-75237800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr11:75236000-75237800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:75236000-75237800	Active TSS	A549	lung
18	chr11:75236000-75237800	Active TSS	HSMM	muscle
19	chr11:75236000-75238000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:75236000-75238200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:75236200-75237600	Active TSS	Aorta	Aorta
22	chr11:75236200-75237600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr11:75236200-75237600	Active TSS	Small Intestine	intestine
24	chr11:75236200-75237800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:75236200-75237800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:75236200-75237800	Active TSS	Brain Anterior Caudate	brain
27	chr11:75236400-75237600	Active TSS	Left Ventricle	heart
28	chr11:75236400-75237600	Active TSS	Lung	lung
29	chr11:75236400-75237600	Active TSS	Ovary	ovary
30	chr11:75236400-75237600	Active TSS	Spleen	Spleen
31	chr11:75236400-75237600	Active TSS	GM12878-XiMat	blood
32	chr11:75236400-75237800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:75236400-75237800	Active TSS	Osteobl	bone
34	chr11:75236600-75237600	Active TSS	Fetal Intestine Small	intestine
35	chr11:75236600-75237600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr11:75236600-75237600	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr11:75236600-75237800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:75236600-75237800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:75236600-75237800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:75236600-75237800	Active TSS	Fetal Kidney	kidney
41	chr11:75236600-75238000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:75236600-75238000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:75236600-75238000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:75236600-75238000	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr11:75236600-75238000	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:75236600-75238200	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr11:75236600-75239800	Weak transcription	Fetal Heart	heart
48	chr11:75236800-75237600	Active TSS	Esophagus	oesophagus
49	chr11:75236800-75237800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr11:75236800-75237800	Active TSS	Fetal Lung	lung

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