Variant report

Variant	rs11760336
Chromosome Location	chr7:21582516-21582517
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	KAP1	chr7:21582435-21582884	HEK293	kidney:	n/a	n/a
2	CTCF	chr7:21582426-21582811	H1-hESC	embryonic stem cell:	n/a	chr7:21582599-21582612 chr7:21582602-21582615
3	CTCF	chr7:21582500-21582650	SAEC	small airway:	n/a	chr7:21582599-21582612 chr7:21582602-21582615
4	CTBP2	chr7:21582365-21583407	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF1	chr7:21582383-21583091	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr7:21582502-21583045	H1-hESC	embryonic stem cell:	n/a	chr7:21582627-21582642
7	MAX	chr7:21582429-21582703	K562	blood:	n/a	n/a
8	TAF1	chr7:21582424-21583543	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:21582354-21583131	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:21582358-21582844	ECC-1	luminal epithelium:	n/a	n/a
11	HMGN3	chr7:21582458-21582924	K562	blood:	n/a	n/a
12	RAD21	chr7:21582316-21583140	H1-hESC	embryonic stem cell:	n/a	chr7:21582452-21582464 chr7:21582603-21582616 chr7:21582599-21582609
13	ZBTB7A	chr7:21582410-21582888	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr7:21582459-21583017	ECC-1	luminal epithelium:	n/a	n/a
15	MYC	chr7:21582375-21582584	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF263	chr7:21582381-21583571	HEK293-T-REx	kidney:	n/a	chr7:21583362-21583371
17	MAX	chr7:21582285-21583573	H1-hESC	embryonic stem cell:	n/a	chr7:21583370-21583377 chr7:21583365-21583380
18	MAZ	chr7:21582484-21582705	K562	blood:	n/a	n/a
19	BACH1	chr7:21582372-21583494	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr7:21582511-21582813	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr7:21582223-21583607	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:21582456-21583261	MCF-7	breast:	n/a	n/a
23	SP4	chr7:21582455-21582774	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr7:21582485-21583177	A549	lung:	n/a	n/a
25	MAX	chr7:21582323-21583072	ECC-1	luminal epithelium:	n/a	n/a
26	SIN3A	chr7:21582399-21583491	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr7:21582242-21583076	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr7:21582420-21582570	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr7:21582475-21582738	H1-hESC	embryonic stem cell:	n/a	chr7:21582599-21582612 chr7:21582602-21582615
30	JUND	chr7:21582392-21582804	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr7:21582204-21584003	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr7:21582500-21582650	HMEC	breast:	n/a	chr7:21582599-21582612 chr7:21582602-21582615
33	MAX	chr7:21582389-21583030	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr7:21582480-21582630	HEEpiC	esophagus:	n/a	chr7:21582599-21582612 chr7:21582602-21582615
35	ZBTB7A	chr7:21582516-21582655	K562	blood:	n/a	n/a
36	MAX	chr7:21582351-21583599	MCF-7	breast:	n/a	chr7:21583370-21583377 chr7:21583365-21583380
37	HDAC2	chr7:21582327-21583360	MCF-7	breast:	n/a	n/a
38	POLR2A	chr7:21582381-21583213	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr7:21582500-21582650	HCPEpiC	choroid plexus:	n/a	chr7:21582599-21582612 chr7:21582602-21582615
40	MAX	chr7:21582492-21582791	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr7:21582443-21583541	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr7:21582350-21583528	A549	lung:	n/a	chr7:21583370-21583377 chr7:21583365-21583380
43	SIN3AK20	chr7:21582463-21582946	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr7:21582510-21582954	Gliobla	brain:	n/a	n/a
45	POLR2A	chr7:21582460-21582726	MCF10A-Er-Src	breast:	n/a	n/a
46	RAD21	chr7:21582311-21583175	H1-hESC	embryonic stem cell:	n/a	chr7:21582452-21582464 chr7:21582603-21582616 chr7:21582599-21582609
47	MAX	chr7:21582278-21583805	H1-hESC	embryonic stem cell:	n/a	chr7:21583370-21583377 chr7:21583365-21583380
48	ZBTB7A	chr7:21582343-21582893	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr7:21582480-21582630	HUVEC	blood vessel:	n/a	chr7:21582599-21582612 chr7:21582602-21582615
50	CTCF	chr7:21582480-21582630	GM12869	blood:	n/a	chr7:21582599-21582612 chr7:21582602-21582615

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:21582502-21582552	MCF10A-Er-Src	breast:	n/a
2	chr7:21582502-21582552	BE2_C	brain:	n/a
3	chr7:21582502-21582552	NT2-D1	testis:	n/a
4	chr7:21582502-21582552	HCPEpiC	choroid plexus:	n/a
5	chr7:21582502-21582552	ECC-1	luminal epithelium:	n/a
6	chr7:21582502-21582552	HepG2	liver:	n/a
7	chr7:21582502-21582552	SAEC	small airway:	n/a
8	chr7:21582502-21582552	AG09319	gingival:	n/a
9	chr7:21582502-21582552	Jurkat	blood:	n/a
10	chr7:21582502-21582552	K562	blood:	n/a
11	chr7:21582502-21582552	T-47D	breast:	n/a
12	chr7:21582502-21582552	HCF	heart:	n/a
13	chr7:21582502-21582552	AoSMC	blood vessel:	n/a
14	chr7:21582502-21582552	BJ	skin:	n/a
15	chr7:21582502-21582552	AG04450	lung:	fetal
16	chr7:21582502-21582552	SK-N-SH	brain:	n/a
17	chr7:21582502-21582552	SK-N-MC	brain:	n/a
18	chr7:21582502-21582552	SKMC	muscle:	n/a
19	chr7:21582502-21582552	CMK	blood:	n/a
20	chr7:21582502-21582552	HEEpiC	esophagus:	n/a
21	chr7:21582502-21582552	U87	brain:	n/a
22	chr7:21582502-21582552	HNPCEpiC	eye:	n/a
23	chr7:21582502-21582552	HIPEpiC	eye:	n/a
24	chr7:21582502-21582552	GM19239	blood:	n/a
25	chr7:21582502-21582552	HRCEpiC	kidney:	n/a
26	chr7:21582502-21582552	AG10803	skin:	n/a
27	chr7:21582502-21582552	PrEC	prostate:	n/a
28	chr7:21582502-21582552	AG04449	skin:	fetal
29	chr7:21582502-21582552	RPTEC	kidney:	n/a
30	chr7:21582502-21582552	HAEpiC	amniotic membrane:	n/a
31	chr7:21582502-21582552	HCT-116	colon:	n/a
32	chr7:21582502-21582552	H1-hESC	embryonic stem cell:	embryo
33	chr7:21582502-21582552	LNCaP	prostate:	n/a
34	chr7:21582502-21582552	NB4	blood:	n/a
35	chr7:21582502-21582552	HRE	kidney:	n/a
36	chr7:21582502-21582552	HCM	heart:	n/a
37	chr7:21582502-21582552	SK-N-SH_RA	brain:	n/a
38	chr7:21582502-21582552	GM06990	blood:	n/a
39	chr7:21582502-21582552	GM12878	blood:	n/a
40	chr7:21582502-21582552	AG09309	skin:	n/a
41	chr7:21582502-21582552	PFSK-1	brain:	n/a
42	chr7:21582502-21582552	Hepatocyte	liver:	n/a
43	chr7:21582502-21582552	HL-60	blood:	n/a
44	chr7:21582502-21582552	HMEC	breast:	n/a
45	chr7:21582502-21582552	NHDF-neo	bronchial:	n/a
46	chr7:21582502-21582552	MCF-7	breast:	n/a
47	chr7:21582502-21582552	GM12892	blood:	n/a
48	chr7:21582502-21582552	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:21582502-21582552	Caco-2	colon:	n/a
50	chr7:21582502-21582552	Hela-S3	cervix:	n/a

Variant related genes	Relation type
DNAH11	TF binding region
DNAH11	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11773317	0.82[CHB][hapmap]
rs56162213	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62441765	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1030577	chr7:21548909-21681379	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1025634	chr7:21566727-21686272	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21582200-21582600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr7:21582200-21583000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
3	chr7:21582200-21583200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:21582200-21583200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr7:21582200-21583200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:21582200-21583200	Bivalent/Poised TSS	A549	lung
7	chr7:21582200-21583200	Bivalent/Poised TSS	NH-A	brain
8	chr7:21582200-21583400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:21582200-21583400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:21582200-21583600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:21582200-21583600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:21582200-21583600	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr7:21582200-21583600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr7:21582200-21583800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr7:21582200-21583800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:21582200-21583800	Flanking Active TSS	Liver	Liver
17	chr7:21582200-21583800	Bivalent Enhancer	Fetal Brain Male	brain
18	chr7:21582200-21583800	Active TSS	Right Atrium	heart
19	chr7:21582200-21584000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:21582200-21584000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:21582200-21584000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:21582200-21584800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:21582400-21582600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:21582400-21582600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:21582400-21582600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:21582400-21582600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
27	chr7:21582400-21582600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr7:21582400-21582600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr7:21582400-21582600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:21582400-21582600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
31	chr7:21582400-21582600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
32	chr7:21582400-21582600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
33	chr7:21582400-21582600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr7:21582400-21582600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
35	chr7:21582400-21582600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:21582400-21582600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
37	chr7:21582400-21582600	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr7:21582400-21582600	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr7:21582400-21582600	Bivalent Enhancer	Fetal Thymus	thymus
40	chr7:21582400-21582600	Enhancers	Gastric	stomach
41	chr7:21582400-21582600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
42	chr7:21582400-21582600	Enhancers	Ovary	ovary
43	chr7:21582400-21582600	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
44	chr7:21582400-21582600	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr7:21582400-21582600	Bivalent Enhancer	Spleen	Spleen
46	chr7:21582400-21582800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr7:21582400-21582800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:21582400-21582800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:21582400-21582800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
50	chr7:21582400-21583000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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