Variant report

Variant	rs6461255
Chromosome Location	chr7:16462463-16462464
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr7:16462287-16462992	K562	blood:	n/a	chr7:16462315-16462326 chr7:16462310-16462327 chr7:16462315-16462327 chr7:16462315-16462327 chr7:16462316-16462330 chr7:16462312-16462326 chr7:16462316-16462326 chr7:16462315-16462329 chr7:16462315-16462328
2	CTCF	chr7:16462460-16462610	RPTEC	kidney:	n/a	n/a
3	CTCF	chr7:16462460-16462730	HCT-116	colon:	n/a	n/a
4	TEAD4	chr7:16462326-16463047	K562	blood:	n/a	n/a
5	TBL1XR1	chr7:16462398-16462879	K562	blood:	n/a	n/a
6	CTCF	chr7:16462384-16462855	K562	blood:	n/a	n/a
7	EP300	chr7:16462384-16462964	K562	blood:	n/a	n/a
8	ARID3A	chr7:16461914-16463016	K562	blood:	n/a	chr7:16462172-16462188
9	NR2F2	chr7:16462240-16462950	K562	blood:	n/a	n/a
10	MYC	chr7:16462442-16462767	K562	blood:	n/a	n/a
11	CBX3	chr7:16462362-16463002	K562	blood:	n/a	n/a
12	CTCFL	chr7:16462459-16462689	K562	blood:	n/a	n/a
13	PML	chr7:16462330-16462998	K562	blood:	n/a	n/a
14	CTCF	chr7:16462391-16462850	K562	blood:	n/a	n/a
15	MAZ	chr7:16462404-16462860	K562	blood:	n/a	n/a
16	CTCF	chr7:16462421-16462780	K562	blood:	n/a	n/a
17	RAD21	chr7:16462393-16462887	H1-hESC	embryonic stem cell:	n/a	n/a
18	GATA2	chr7:16462417-16462900	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:16462463-16462513	HCF	heart:	n/a
2	chr7:16462463-16462513	Jurkat	blood:	n/a
3	chr7:16462463-16462513	HNPCEpiC	eye:	n/a
4	chr7:16462463-16462513	HCT-116	colon:	n/a
5	chr7:16462463-16462513	NH-A	brain:	n/a
6	chr7:16462463-16462513	HL-60	blood:	n/a
7	chr7:16462463-16462513	T-47D	breast:	n/a
8	chr7:16462463-16462513	NB4	blood:	n/a
9	chr7:16462463-16462513	HRPEpiC	eye:	n/a
10	chr7:16462463-16462513	HepG2	liver:	n/a
11	chr7:16462463-16462513	AoSMC	blood vessel:	n/a
12	chr7:16462463-16462513	HRCEpiC	kidney:	n/a
13	chr7:16462463-16462513	HMEC	breast:	n/a
14	chr7:16462463-16462513	PANC-1	pancreas:	n/a
15	chr7:16462463-16462513	SK-N-SH	brain:	n/a
16	chr7:16462463-16462513	NT2-D1	testis:	n/a
17	chr7:16462463-16462513	ovcar-3	ovarian:	n/a
18	chr7:16462463-16462513	AG10803	skin:	n/a
19	chr7:16462463-16462513	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:16462463-16462513	LNCaP	prostate:	n/a
21	chr7:16462463-16462513	BJ	skin:	n/a
22	chr7:16462463-16462513	Hela-S3	cervix:	n/a
23	chr7:16462463-16462513	GM19239	blood:	n/a
24	chr7:16462463-16462513	PFSK-1	brain:	n/a
25	chr7:16462463-16462513	ECC-1	luminal epithelium:	n/a
26	chr7:16462463-16462513	HAEpiC	amniotic membrane:	n/a
27	chr7:16462463-16462513	RPTEC	kidney:	n/a
28	chr7:16462463-16462513	HEK293	kidney:	embryo
29	chr7:16462463-16462513	PrEC	prostate:	n/a
30	chr7:16462463-16462513	HIPEpiC	eye:	n/a
31	chr7:16462463-16462513	HCM	heart:	n/a
32	chr7:16462463-16462513	AG09309	skin:	n/a
33	chr7:16462463-16462513	GM12892	blood:	n/a
34	chr7:16462463-16462513	Caco-2	colon:	n/a
35	chr7:16462463-16462513	SAEC	small airway:	n/a
36	chr7:16462463-16462513	GM12878	blood:	n/a
37	chr7:16462463-16462513	H1-hESC	embryonic stem cell:	embryo
38	chr7:16462463-16462513	AG04449	skin:	fetal
39	chr7:16462463-16462513	SK-N-SH_RA	brain:	n/a
40	chr7:16462463-16462513	NHBE	bronchial:	n/a
41	chr7:16462463-16462513	ProgFib	skin:	n/a
42	chr7:16462463-16462513	NHDF-neo	bronchial:	n/a
43	chr7:16462463-16462513	AG09319	gingival:	n/a
44	chr7:16462463-16462513	AG04450	lung:	fetal
45	chr7:16462463-16462513	Hepatocyte	liver:	n/a
46	chr7:16462463-16462513	GM12891	blood:	n/a
47	chr7:16462463-16462513	U87	brain:	n/a
48	chr7:16462463-16462513	MCF-7	breast:	n/a
49	chr7:16462463-16462513	CMK	blood:	n/a
50	chr7:16462463-16462513	IMR90	lung:	fetal

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16460189..16463814-chr7:16683756..16686111,3	MCF-7	breast:
2	chr7:16460318..16462710-chr7:16792580..16794734,3	K562	blood:
3	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
4	chr7:16307891..16309646-chr7:16460887..16462647,2	K562	blood:
5	chr7:16161067..16163627-chr7:16461364..16462917,2	K562	blood:
6	chr7:16300347..16301994-chr7:16462021..16464400,2	K562	blood:
7	chr7:16309917..16312167-chr7:16461370..16463570,2	K562	blood:
8	chr7:16242935..16245142-chr7:16460996..16462500,2	MCF-7	breast:

No data

Variant related genes	Relation type
ISPD	TF binding region
ISPD	CpG island
ENSG00000106524	Chromatin interaction
ENSG00000229688	Chromatin interaction
ENSG00000106537	Chromatin interaction
ENSG00000136261	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10240752	0.83[EUR][1000 genomes]
rs10257504	0.82[EUR][1000 genomes]
rs10259225	0.81[EUR][1000 genomes]
rs10267886	0.81[EUR][1000 genomes]
rs10272029	0.81[EUR][1000 genomes]
rs10464287	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10950619	0.86[EUR][1000 genomes]
rs11976934	0.82[EUR][1000 genomes]
rs17617900	0.82[EUR][1000 genomes]
rs17680292	0.82[EUR][1000 genomes]
rs2178597	0.81[EUR][1000 genomes]
rs28512480	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56206818	0.82[EUR][1000 genomes]
rs56223703	0.86[EUR][1000 genomes]
rs60989361	0.87[EUR][1000 genomes]
rs6461254	0.80[EUR][1000 genomes]
rs66743577	0.82[EUR][1000 genomes]
rs6947550	0.82[EUR][1000 genomes]
rs6948660	0.82[EUR][1000 genomes]
rs6949112	0.82[EUR][1000 genomes]
rs6955398	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6958802	0.82[EUR][1000 genomes]
rs7782939	0.90[EUR][1000 genomes]
rs7810822	0.81[EUR][1000 genomes]
rs9655136	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9691296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9886352	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16461400-16462800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:16461400-16463000	Enhancers	Stomach Mucosa	stomach
3	chr7:16461400-16469000	Weak transcription	Aorta	Aorta
4	chr7:16461600-16462600	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr7:16461600-16462600	Enhancers	Liver	Liver
6	chr7:16461600-16462600	Enhancers	Fetal Intestine Small	intestine
7	chr7:16461600-16462600	Weak transcription	Psoas Muscle	Psoas
8	chr7:16461600-16462600	Enhancers	Right Atrium	heart
9	chr7:16461600-16462800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:16461600-16462800	Enhancers	Fetal Intestine Large	intestine
11	chr7:16461600-16463000	Enhancers	Placenta	Placenta
12	chr7:16461600-16469600	Weak transcription	Gastric	stomach
13	chr7:16461600-16478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:16461800-16462600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:16461800-16462800	Enhancers	Brain Anterior Caudate	brain
16	chr7:16461800-16462800	Enhancers	Colon Smooth Muscle	Colon
17	chr7:16461800-16462800	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:16461800-16465200	Weak transcription	Right Ventricle	heart
19	chr7:16462000-16462600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:16462000-16462600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:16462000-16462600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr7:16462000-16462600	Enhancers	HepG2	liver
23	chr7:16462000-16462800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:16462000-16462800	Enhancers	Stomach Smooth Muscle	stomach
25	chr7:16462000-16468000	Weak transcription	NH-A	brain
26	chr7:16462200-16462800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:16462200-16463800	Weak transcription	Fetal Lung	lung
28	chr7:16462200-16468000	Weak transcription	NHDF-Ad	bronchial
29	chr7:16462200-16468600	Weak transcription	NHLF	lung
30	chr7:16462200-16473200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:16462400-16462600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:16462400-16462800	Enhancers	Left Ventricle	heart
33	chr7:16462400-16463000	Flanking Active TSS	K562	blood

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