Variant report

Variant	rs7686487
Chromosome Location	chr4:57000662-57000663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56996872..56999249-chr4:57000156..57002361,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11723545	0.93[ASN][1000 genomes]
rs11731420	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11736354	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2127198	0.82[ASN][1000 genomes]
rs28392731	0.93[ASN][1000 genomes]
rs28407980	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28418386	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28421026	0.82[ASN][1000 genomes]
rs28433043	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463663	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28603237	0.93[ASN][1000 genomes]
rs28685820	0.83[AMR][1000 genomes]
rs41335053	0.93[ASN][1000 genomes]
rs6554333	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv999328	chr4:56942917-57041586	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1007114	chr4:56942917-57055381	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats 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	50 gene(s)	inside rSNPs	diseases
5	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1012036	chr4:56963544-57106642	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56952000-57024400	Weak transcription	Fetal Intestine Small	intestine
2	chr4:56994400-57003000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:56994400-57015200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:56994600-57001600	Weak transcription	Fetal Brain Female	brain
5	chr4:56996000-57004000	Weak transcription	Fetal Brain Male	brain
6	chr4:56996000-57015400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:56997200-57005200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:56999600-57001200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:56999600-57001200	Enhancers	Fetal Kidney	kidney
10	chr4:56999800-57001400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:57000000-57001200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:57000000-57001600	Enhancers	HSMM	muscle
13	chr4:57000000-57002000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:57000200-57000800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:57000200-57000800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:57000200-57000800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:57000200-57000800	Enhancers	Pancreas	Pancrea
18	chr4:57000200-57001000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:57000200-57001000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:57000200-57001000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:57000200-57001000	Enhancers	Fetal Lung	lung
22	chr4:57000200-57001000	Enhancers	HepG2	liver
23	chr4:57000200-57001200	Enhancers	Esophagus	oesophagus
24	chr4:57000200-57001400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:57000200-57001600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:57000200-57001600	Enhancers	Fetal Stomach	stomach
27	chr4:57000200-57001800	Enhancers	Ovary	ovary
28	chr4:57000200-57001800	Enhancers	HUVEC	blood vessel
29	chr4:57000200-57002000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:57000400-57000800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:57000400-57000800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:57000400-57000800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:57000400-57000800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:57000400-57000800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:57000400-57000800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:57000400-57000800	Flanking Active TSS	Hela-S3	cervix
37	chr4:57000400-57000800	Enhancers	NH-A	brain
38	chr4:57000400-57001000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:57000400-57001000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:57000400-57001800	Enhancers	HSMMtube	muscle
41	chr4:57000600-57000800	Enhancers	Primary hematopoietic stem cells	blood
42	chr4:57000600-57001400	Enhancers	Brain Germinal Matrix	brain
43	chr4:57000600-57001400	Enhancers	Fetal Muscle Trunk	muscle
44	chr4:57000600-57001400	Enhancers	Fetal Muscle Leg	muscle

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