Variant report

Variant	rs2302551
Chromosome Location	chr7:8301583-8301584
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	MAX	chr7:8300432-8302566	MCF-7	breast:	n/a	chr7:8300605-8300614
2	MAX	chr7:8300833-8302605	HCT-116	colon:	n/a	n/a
3	TFAP2C	chr7:8300787-8301988	Hela-S3	cervix:	n/a	n/a
4	GABPA	chr7:8301392-8302032	K562	blood:	n/a	chr7:8301595-8301604
5	UBTF	chr7:8300857-8302105	K562	blood:	n/a	n/a
6	ZBTB7A	chr7:8301209-8302314	K562	blood:	n/a	chr7:8301817-8301824
7	SIN3A	chr7:8300908-8302413	H1-hESC	embryonic stem cell:	n/a	chr7:8301209-8301220
8	E2F6	chr7:8301369-8302352	K562	blood:	n/a	chr7:8301452-8301461
9	HEY1	chr7:8301265-8302402	K562	blood:	n/a	chr7:8301417-8301432 chr7:8301822-8301837
10	UBTF	chr7:8300467-8302342	K562	blood:	n/a	n/a
11	FOS	chr7:8300228-8302669	HUVEC	blood vessel:	n/a	chr7:8300607-8300614 chr7:8300606-8300615 chr7:8300605-8300614 chr7:8300604-8300615 chr7:8300606-8300614
12	POLR2A	chr7:8300721-8302460	HCT-116	colon:	n/a	n/a
13	MXI1	chr7:8298200-8304061	SK-N-SH	brain:	n/a	n/a
14	MAZ	chr7:8300789-8302348	K562	blood:	n/a	n/a
15	ZKSCAN1	chr7:8301028-8301978	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:8300827-8302066	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:8301321-8302451	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr7:8300471-8302542	MCF-7	breast:	n/a	n/a
19	MYC	chr7:8300533-8302414	K562	blood:	n/a	chr7:8300605-8300614
20	POLR2A	chr7:8301385-8302366	H1-neurons	neurons:	n/a	n/a
21	ZNF263	chr7:8300930-8302223	K562	blood:	n/a	chr7:8301514-8301535 chr7:8301516-8301525
22	E2F6	chr7:8301016-8302460	K562	blood:	n/a	chr7:8301266-8301276 chr7:8301452-8301461
23	ZBTB7A	chr7:8301257-8302368	ECC-1	luminal epithelium:	n/a	chr7:8301817-8301824
24	MYC	chr7:8301269-8302458	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:8300806-8302111	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr7:8300887-8302015	Hela-S3	cervix:	n/a	n/a
27	E2F4	chr7:8301409-8301633	MCF10A-Er-Src	breast:	n/a	chr7:8301452-8301461
28	POLR2A	chr7:8301369-8302066	HCT-116	colon:	n/a	n/a
29	POLR2A	chr7:8300801-8302345	K562	blood:	n/a	n/a
30	POLR2A	chr7:8301425-8302082	K562	blood:	n/a	n/a
31	ZMIZ1	chr7:8301427-8302087	K562	blood:	n/a	n/a
32	POLR2A	chr7:8300901-8302396	MCF-7	breast:	n/a	n/a
33	RCOR1	chr7:8301068-8301997	Hela-S3	cervix:	n/a	n/a
34	CBX3	chr7:8301567-8301945	K562	blood:	n/a	n/a
35	POLR2A	chr7:8300488-8302512	MCF10A-Er-Src	breast:	n/a	n/a
36	MAX	chr7:8301283-8301881	MCF-7	breast:	n/a	n/a
37	JUND	chr7:8300373-8302543	K562	blood:	n/a	chr7:8300607-8300614 chr7:8300606-8300615 chr7:8300604-8300615 chr7:8300605-8300614 chr7:8300606-8300614
38	ZBTB7A	chr7:8301336-8302273	K562	blood:	n/a	chr7:8301817-8301824
39	POLR2A	chr7:8300823-8302238	K562	blood:	n/a	n/a
40	POLR2A	chr7:8300755-8303185	H1-hESC	embryonic stem cell:	n/a	n/a
41	BHLHE40	chr7:8301476-8302324	K562	blood:	n/a	n/a
42	REST	chr7:8301361-8302392	SK-N-SH	brain:	n/a	chr7:8301422-8301435
43	GATA2	chr7:8301468-8302458	SH-SY5Y	brain:	n/a	n/a
44	TBP	chr7:8300588-8302460	K562	blood:	n/a	n/a
45	EP300	chr7:8297240-8304935	SK-N-SH	brain:	n/a	chr7:8301242-8301256 chr7:8302651-8302665 chr7:8302093-8302106 chr7:8303194-8303204 chr7:8300605-8300614 chr7:8303165-8303175 chr7:8301853-8301862 chr7:8300606-8300615 chr7:8301597-8301613 chr7:8301595-8301604
46	ZBTB7A	chr7:8301232-8302516	ECC-1	luminal epithelium:	n/a	chr7:8301817-8301824
47	POLR2A	chr7:8300559-8302141	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr7:8300889-8302073	HEK293	kidney:	n/a	n/a
49	MAX	chr7:8300898-8302392	K562	blood:	n/a	n/a
50	POLR2A	chr7:8300545-8302215	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7678479..7681346-chr7:8300009..8302111,2	K562	blood:
2	chr16:18812683..18814346-chr7:8299005..8301772,2	MCF-7	breast:
3	chr7:8272591..8276389-chr7:8300036..8303147,3	MCF-7	breast:
4	chr7:7601559..7604327-chr7:8300528..8302351,2	MCF-7	breast:
5	chr7:7604819..7606875-chr7:8300807..8302647,2	MCF-7	breast:
6	chr14:59950994..59951855-chr7:8301396..8302024,2	HCT-116	colon:
7	chr1:43123591..43124477-chr7:8301389..8302048,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000244239	TF binding region
ENSG00000229970	TF binding region
ENSG00000219545	Chromatin interaction
ENSG00000171960	Chromatin interaction
ENSG00000260342	Chromatin interaction
ENSG00000003147	Chromatin interaction
ENSG00000126790	Chromatin interaction
ENSG00000050130	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000170540	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3779356	0.88[ASN][1000 genomes]
rs3779357	0.87[ASN][1000 genomes]
rs3807801	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807802	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807803	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807804	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807806	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807807	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807808	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3807810	0.85[ASN][1000 genomes]
rs3823815	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3823816	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9472	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949024	chr7:8176301-8522495	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1031226	chr7:8176311-8569811	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv538724	chr7:8176311-8569811	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv887492	chr7:8177689-8513927	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1026247	chr7:8178837-8527868	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv464305	chr7:8179655-8524707	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv606050	chr7:8179655-8524707	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv1020942	chr7:8179655-8524774	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv464307	chr7:8179846-8453313	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv606051	chr7:8179846-8453313	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034583	chr7:8180210-8527868	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv1030373	chr7:8184961-8527868	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv949082	chr7:8189594-8494386	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv948997	chr7:8189594-8522495	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv915625	chr7:8201631-8554402	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv1033563	chr7:8222805-8512632	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
20	nsv1024586	chr7:8243829-8490078	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
21	nsv538725	chr7:8243829-8490078	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
22	nsv949715	chr7:8288705-8522495	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
23	nsv464308	chr7:8288705-8953858	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
24	nsv606054	chr7:8288705-8953858	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8300000-8302200	Active TSS	Brain Angular Gyrus	brain
2	chr7:8300000-8302600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:8300000-8302600	Active TSS	Right Ventricle	heart
4	chr7:8300000-8304000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:8300200-8302000	Active TSS	Fetal Intestine Large	intestine
6	chr7:8300200-8302200	Active TSS	K562	blood
7	chr7:8300200-8302800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr7:8300400-8302000	Active TSS	Brain Hippocampus Middle	brain
9	chr7:8300400-8302000	Active TSS	NHEK	skin
10	chr7:8300400-8302200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr7:8300400-8302200	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr7:8300400-8302200	Bivalent/Poised TSS	Psoas Muscle	Psoas
13	chr7:8300400-8302200	Active TSS	Stomach Mucosa	stomach
14	chr7:8300400-8302400	Active TSS	Fetal Intestine Small	intestine
15	chr7:8300400-8302600	Active TSS	Brain Cingulate Gyrus	brain
16	chr7:8300400-8302800	Active TSS	Duodenum Mucosa	Duodenum
17	chr7:8300400-8302800	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr7:8300600-8301600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:8300600-8301600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
20	chr7:8300600-8301800	Active TSS	Colon Smooth Muscle	Colon
21	chr7:8300600-8302000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
22	chr7:8300600-8302000	Active TSS	Colonic Mucosa	Colon
23	chr7:8300600-8302200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr7:8300600-8302200	Active TSS	Left Ventricle	heart
25	chr7:8300600-8302200	Bivalent/Poised TSS	Ovary	ovary
26	chr7:8300600-8302200	Active TSS	Pancreas	Pancrea
27	chr7:8300600-8302200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
28	chr7:8300600-8302400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:8300600-8302400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:8300600-8302400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:8300600-8302400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr7:8300600-8302400	Bivalent/Poised TSS	Osteobl	bone
33	chr7:8300600-8302600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr7:8300600-8302600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr7:8300600-8302800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr7:8300600-8303000	Active TSS	Brain Anterior Caudate	brain
37	chr7:8300800-8301600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr7:8300800-8302000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:8300800-8302000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:8300800-8302000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:8300800-8302200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:8300800-8302200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:8300800-8302200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr7:8300800-8302200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:8300800-8302200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:8300800-8302200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
47	chr7:8300800-8302200	Active TSS	Gastric	stomach
48	chr7:8300800-8302200	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr7:8300800-8302400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:8300800-8302400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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