Variant report

Variant	rs2385912
Chromosome Location	chr4:7934617-7934618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12696835	0.81[EUR][1000 genomes]
rs1344223	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385914	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28446696	0.84[EUR][1000 genomes]
rs66479458	0.84[EUR][1000 genomes]
rs6840305	0.81[EUR][1000 genomes]
rs6846757	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7669433	0.83[EUR][1000 genomes]
rs7669645	0.83[EUR][1000 genomes]
rs7695142	0.84[EUR][1000 genomes]
rs7695170	0.83[EUR][1000 genomes]
rs7698368	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9993085	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7907800-7935800	Weak transcription	Right Ventricle	heart
2	chr4:7926600-7936600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:7926800-7935400	Weak transcription	Fetal Brain Male	brain
4	chr4:7930600-7935600	Genic enhancers	Osteobl	bone
5	chr4:7931400-7935400	Weak transcription	Fetal Brain Female	brain
6	chr4:7931400-7939800	Weak transcription	Fetal Kidney	kidney
7	chr4:7931600-7939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:7931600-7939600	Weak transcription	Ovary	ovary
9	chr4:7931600-7939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:7931600-7939800	Weak transcription	Lung	lung
11	chr4:7931800-7935400	Weak transcription	Aorta	Aorta
12	chr4:7931800-7935800	Weak transcription	NHDF-Ad	bronchial
13	chr4:7931800-7937200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:7931800-7937600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:7931800-7938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:7931800-7938600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:7931800-7939600	Weak transcription	Brain Angular Gyrus	brain
18	chr4:7932000-7934800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:7932000-7935400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:7932000-7935600	Weak transcription	Gastric	stomach
21	chr4:7932000-7935800	Weak transcription	Stomach Mucosa	stomach
22	chr4:7932000-7936200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:7932000-7937400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:7932000-7938000	Weak transcription	Brain Germinal Matrix	brain
25	chr4:7932000-7938800	Weak transcription	Fetal Lung	lung
26	chr4:7932000-7939600	Weak transcription	Brain Anterior Caudate	brain
27	chr4:7932000-7939600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:7932000-7939600	Weak transcription	Left Ventricle	heart
29	chr4:7932000-7939600	Weak transcription	NHLF	lung
30	chr4:7932000-7939800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:7932000-7939800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:7932000-7939800	Weak transcription	Small Intestine	intestine
33	chr4:7932200-7934800	Weak transcription	Fetal Intestine Small	intestine
34	chr4:7932200-7934800	Weak transcription	NH-A	brain
35	chr4:7932200-7935200	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:7932200-7935400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:7932200-7935400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:7932200-7935400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:7932200-7935400	Weak transcription	HSMM	muscle
40	chr4:7932200-7935800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:7932200-7936000	Weak transcription	Colonic Mucosa	Colon
42	chr4:7932200-7936000	Weak transcription	Colon Smooth Muscle	Colon
43	chr4:7932200-7936000	Weak transcription	Right Atrium	heart
44	chr4:7932200-7938400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:7932200-7939600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:7932200-7939600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:7932200-7939800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr4:7932200-7939800	Weak transcription	Pancreas	Pancrea
49	chr4:7932400-7935200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:7932400-7935400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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