Variant report

Variant	rs2285942
Chromosome Location	chr7:21582917-21582918
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	CTCF	chr7:21582880-21583030	HRPEpiC	eye:	n/a	n/a
2	CTCF	chr7:21582900-21583050	HBMEC	blood vessel:	n/a	n/a
3	CTBP2	chr7:21582365-21583407	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:21582891-21583048	A549	lung:	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	TAF1	chr7:21582424-21583543	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:21582354-21583131	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr7:21582904-21583051	GM12891	blood:	n/a	n/a
10	HMGN3	chr7:21582458-21582924	K562	blood:	n/a	n/a
11	RAD21	chr7:21582316-21583140	H1-hESC	embryonic stem cell:	n/a	chr7:21582452-21582464 chr7:21582603-21582616 chr7:21582599-21582609
12	TCF12	chr7:21582459-21583017	ECC-1	luminal epithelium:	n/a	n/a
13	ZNF263	chr7:21582381-21583571	HEK293-T-REx	kidney:	n/a	chr7:21583362-21583371
14	CTCF	chr7:21582900-21583050	BJ	skin:	n/a	n/a
15	CTCF	chr7:21582884-21583072	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr7:21582860-21583010	SAEC	small airway:	n/a	n/a
17	MAX	chr7:21582285-21583573	H1-hESC	embryonic stem cell:	n/a	chr7:21583370-21583377 chr7:21583365-21583380
18	BACH1	chr7:21582372-21583494	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr7:21582223-21583607	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:21582456-21583261	MCF-7	breast:	n/a	n/a
21	CTCF	chr7:21582780-21582930	AoAF	blood vessel:	n/a	n/a
22	MAX	chr7:21582485-21583177	A549	lung:	n/a	n/a
23	MAX	chr7:21582323-21583072	ECC-1	luminal epithelium:	n/a	n/a
24	SIN3A	chr7:21582399-21583491	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr7:21582242-21583076	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr7:21582204-21584003	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr7:21582389-21583030	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr7:21582351-21583599	MCF-7	breast:	n/a	chr7:21583370-21583377 chr7:21583365-21583380
29	CTCF	chr7:21582860-21583010	HMEC	breast:	n/a	n/a
30	HDAC2	chr7:21582327-21583360	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:21582381-21583213	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr7:21582647-21583107	H1-hESC	embryonic stem cell:	n/a	n/a
33	YY1	chr7:21582553-21583121	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr7:21582811-21583125	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr7:21582833-21583129	H1-neurons	neurons:	n/a	n/a
36	CHD2	chr7:21582443-21583541	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr7:21582526-21583039	MCF-7	breast:	n/a	n/a
38	MAX	chr7:21582350-21583528	A549	lung:	n/a	chr7:21583370-21583377 chr7:21583365-21583380
39	CTCF	chr7:21582871-21583002	Gliobla	brain:	n/a	n/a
40	POLR2A	chr7:21582849-21583103	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr7:21582463-21582946	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr7:21582510-21582954	Gliobla	brain:	n/a	n/a
43	CTCF	chr7:21582840-21582990	HRE	kidney:	n/a	n/a
44	RAD21	chr7:21582311-21583175	H1-hESC	embryonic stem cell:	n/a	chr7:21582452-21582464 chr7:21582603-21582616 chr7:21582599-21582609
45	MAX	chr7:21582278-21583805	H1-hESC	embryonic stem cell:	n/a	chr7:21583370-21583377 chr7:21583365-21583380
46	CTCF	chr7:21582860-21583010	HA-sp	spinal cord:	n/a	n/a
47	HDAC2	chr7:21582816-21583099	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF143	chr7:21582499-21583107	H1-hESC	embryonic stem cell:	n/a	n/a
49	TBP	chr7:21582388-21583844	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr7:21582840-21582990	HCPEpiC	choroid plexus:	n/a	n/a

Variant related genes	Relation type
DNAH11	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1011168	0.85[JPT][hapmap]
rs55718143	0.85[EUR][1000 genomes]
rs56259611	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56284737	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56663505	0.85[EUR][1000 genomes]
rs56832849	0.82[EUR][1000 genomes]
rs57648913	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73064436	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73064442	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73064474	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73066446	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73066450	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73066486	0.85[EUR][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21582200-21583000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
2	chr7:21582200-21583200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:21582200-21583200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr7:21582200-21583200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:21582200-21583200	Bivalent/Poised TSS	A549	lung
6	chr7:21582200-21583200	Bivalent/Poised TSS	NH-A	brain
7	chr7:21582200-21583400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:21582200-21583400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:21582200-21583600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:21582200-21583600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:21582200-21583600	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr7:21582200-21583600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr7:21582200-21583800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr7:21582200-21583800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:21582200-21583800	Flanking Active TSS	Liver	Liver
16	chr7:21582200-21583800	Bivalent Enhancer	Fetal Brain Male	brain
17	chr7:21582200-21583800	Active TSS	Right Atrium	heart
18	chr7:21582200-21584000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:21582200-21584000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:21582200-21584000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:21582200-21584800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr7:21582400-21583000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:21582400-21583000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:21582400-21583000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
25	chr7:21582400-21583000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
26	chr7:21582400-21583000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
27	chr7:21582400-21583000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
28	chr7:21582400-21583000	Bivalent/Poised TSS	HepG2	liver
29	chr7:21582400-21583000	Active TSS	NHLF	lung
30	chr7:21582400-21583200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:21582400-21583200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:21582400-21583200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:21582400-21583200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr7:21582400-21583200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:21582400-21583200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr7:21582400-21583200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr7:21582400-21583200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
38	chr7:21582400-21583200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
39	chr7:21582400-21583200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr7:21582400-21583400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:21582400-21583400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:21582400-21583400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:21582400-21583400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr7:21582400-21583400	Active TSS	Aorta	Aorta
45	chr7:21582400-21583400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr7:21582400-21583400	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr7:21582400-21583400	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr7:21582400-21583400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr7:21582400-21583400	Flanking Active TSS	Lung	lung
50	chr7:21582400-21583400	Bivalent/Poised TSS	HSMM	muscle

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