Variant report

Variant	rs7594624
Chromosome Location	chr2:39725981-39725982
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	chr2:39723509..39726047-chr2:39733259..39735822,2	K562	blood:
2	chr2:39719753..39721705-chr2:39724912..39726941,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10191970	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10865150	0.82[CEU][hapmap]
rs11896239	0.83[ASN][1000 genomes]
rs13027520	0.80[ASN][1000 genomes]
rs13391377	0.80[ASN][1000 genomes]
rs17023874	0.97[ASN][1000 genomes]
rs17023923	0.87[ASN][1000 genomes]
rs2373535	0.87[CEU][hapmap]
rs2888602	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs35377016	0.80[ASN][1000 genomes]
rs4670282	0.87[ASN][1000 genomes]
rs4670285	0.85[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4670943	0.86[ASN][1000 genomes]
rs6544224	0.87[CEU][hapmap]
rs72803112	0.83[ASN][1000 genomes]
rs734663	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs7594967	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39702200-39726000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
3	chr2:39720400-39726000	Weak transcription	Stomach Mucosa	stomach
4	chr2:39722200-39730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:39722400-39726000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:39722400-39726000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:39722400-39726000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:39722400-39726000	Weak transcription	Placenta	Placenta
9	chr2:39722400-39726000	Weak transcription	Pancreas	Pancrea
10	chr2:39722400-39726000	Weak transcription	Psoas Muscle	Psoas
11	chr2:39722400-39726000	Weak transcription	Right Atrium	heart
12	chr2:39722400-39726000	Weak transcription	Right Ventricle	heart
13	chr2:39722400-39726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:39722400-39726600	Weak transcription	Left Ventricle	heart
15	chr2:39722400-39726600	Weak transcription	Ovary	ovary
16	chr2:39722400-39727200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:39722400-39727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:39722400-39727400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:39722400-39727600	Weak transcription	Small Intestine	intestine
20	chr2:39722400-39731200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:39722600-39726000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:39722600-39726000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:39722600-39726000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:39722600-39726000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:39722600-39726000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:39722600-39726000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:39722600-39726200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:39722600-39726200	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:39722600-39726200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:39722600-39726600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:39722600-39727400	Weak transcription	K562	blood
32	chr2:39722600-39731200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:39722800-39726000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:39722800-39726400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:39722800-39726600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:39722800-39727600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:39722800-39731200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:39723000-39726400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:39723000-39726400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:39723000-39727800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:39723400-39726000	Weak transcription	HSMMtube	muscle
42	chr2:39723400-39738400	Weak transcription	Lung	lung
43	chr2:39723600-39730400	Weak transcription	HSMM	muscle
44	chr2:39723800-39731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:39724400-39726000	Weak transcription	Fetal Heart	heart
46	chr2:39724400-39726200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:39724400-39727400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:39724600-39726000	Weak transcription	Fetal Stomach	stomach
49	chr2:39724600-39726400	Weak transcription	Fetal Lung	lung
50	chr2:39724800-39726000	Weak transcription	NHDF-Ad	bronchial

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