Variant report

Variant	rs62290669
Chromosome Location	chr4:7651526-7651527
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7647729..7649234-chr4:7649422..7652337,2	K562	blood:
2	chr4:7639269..7641408-chr4:7650130..7651685,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10004763	1.00[ASN][1000 genomes]
rs10005748	1.00[ASN][1000 genomes]
rs57534629	1.00[ASN][1000 genomes]
rs62290662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62290663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62290664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62290666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62290668	1.00[ASN][1000 genomes]
rs62290671	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62290672	1.00[ASN][1000 genomes]
rs62290673	1.00[ASN][1000 genomes]
rs62290674	1.00[AFR][1000 genomes]
rs62290675	1.00[AFR][1000 genomes]
rs62290677	1.00[AFR][1000 genomes]
rs62290680	1.00[AFR][1000 genomes]
rs62290702	1.00[AFR][1000 genomes]
rs62290703	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62290704	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62290705	1.00[AFR][1000 genomes]
rs62290707	1.00[AFR][1000 genomes]
rs62290708	1.00[AFR][1000 genomes]
rs62290710	1.00[AFR][1000 genomes]
rs886366	1.00[ASN][1000 genomes]
rs886367	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886368	1.00[ASN][1000 genomes]
rs886369	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv878571	chr4:7637297-7743283	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7644600-7652600	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7644800-7652600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:7644800-7652800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7646600-7652000	Weak transcription	Brain Substantia Nigra	brain
5	chr4:7646600-7656400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:7647200-7651600	Enhancers	HepG2	liver
7	chr4:7648200-7654800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:7648200-7654800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:7648400-7652200	Weak transcription	Esophagus	oesophagus
10	chr4:7648400-7653600	Enhancers	HUVEC	blood vessel
11	chr4:7648400-7658000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:7648600-7652200	Enhancers	Spleen	Spleen
13	chr4:7648600-7653800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:7648800-7653000	Enhancers	Primary B cells from cord blood	blood
15	chr4:7648800-7653000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr4:7649000-7652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:7649000-7655000	Enhancers	NH-A	brain
18	chr4:7649200-7652400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr4:7649200-7653800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:7649400-7653800	Enhancers	NHLF	lung
21	chr4:7649400-7654000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:7649400-7655000	Enhancers	Duodenum Mucosa	Duodenum
23	chr4:7649400-7655000	Enhancers	HSMM	muscle
24	chr4:7649600-7651800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr4:7649600-7653400	Enhancers	NHDF-Ad	bronchial
26	chr4:7649600-7653800	Enhancers	Osteobl	bone
27	chr4:7649600-7654600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:7649600-7655000	Enhancers	Adipose Nuclei	Adipose
29	chr4:7649600-7655600	Enhancers	HMEC	breast
30	chr4:7649600-7657400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr4:7649600-7659000	Enhancers	Ovary	ovary
32	chr4:7649800-7657000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:7650000-7653600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:7650000-7658600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:7650200-7652000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:7650400-7652400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:7650600-7651600	Bivalent Enhancer	Placenta	Placenta
38	chr4:7650600-7652000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:7650600-7654400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr4:7650600-7655000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:7650600-7658400	Enhancers	Primary hematopoietic stem cells	blood
42	chr4:7650800-7651800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:7650800-7652000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:7650800-7653000	Weak transcription	Right Atrium	heart
45	chr4:7650800-7653200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:7651000-7652800	Weak transcription	Brain Germinal Matrix	brain
47	chr4:7651000-7653000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr4:7651000-7654000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:7651000-7654400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:7651000-7655600	Enhancers	Primary T helper cells fromperipheralblood	blood

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