Variant report

Variant	rs2288371
Chromosome Location	chr3:42977669-42977670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr3:42977620-42977997	K562	blood:	n/a	chr3:42977832-42977845
2	GABPA	chr3:42977640-42978515	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42976404..42980028-chr3:42981618..42984060,3	K562	blood:
2	chr3:42977585..42980028-chr3:42981618..42983637,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP8B1-1	chr3:42977249-42978277	ENSG00000206552

Variant related genes	Relation type
KRBOX1	TF binding region
ENSG00000273291	TF binding region
ENSG00000240747	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11129987	0.95[ASN][1000 genomes]
rs11129988	0.95[ASN][1000 genomes]
rs2288372	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2288373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs526511	0.87[ASN][1000 genomes]
rs542394	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs545023	1.00[JPT][hapmap]
rs59789275	0.91[ASN][1000 genomes]
rs60046829	0.91[ASN][1000 genomes]
rs60607395	0.91[ASN][1000 genomes]
rs60616619	0.87[ASN][1000 genomes]
rs61102947	0.91[ASN][1000 genomes]
rs615462	0.82[ASN][1000 genomes]
rs619660	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs638602	0.87[ASN][1000 genomes]
rs6778645	1.00[ASN][1000 genomes]
rs6779194	0.91[ASN][1000 genomes]
rs6798520	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7621158	0.91[ASN][1000 genomes]
rs7625959	1.00[JPT][hapmap]
rs834183	0.87[ASN][1000 genomes]
rs834579	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs834584	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs834699	0.87[ASN][1000 genomes]
rs9874514	0.85[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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42962400-42980400	Weak transcription	Placenta	Placenta
2	chr3:42975800-42977800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:42975800-42978200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr3:42976000-42978000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr3:42976000-42978000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr3:42976000-42978200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr3:42976200-42977800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:42976200-42978000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:42976200-42978000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr3:42976400-42977800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr3:42976800-42977800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr3:42977000-42978600	Active TSS	Brain Anterior Caudate	brain
13	chr3:42977200-42978200	Enhancers	Primary T cells from cord blood	blood
14	chr3:42977200-42978200	Active TSS	Brain Angular Gyrus	brain
15	chr3:42977200-42978400	Active TSS	Brain Hippocampus Middle	brain
16	chr3:42977200-42978400	Active TSS	Stomach Smooth Muscle	stomach
17	chr3:42977400-42977800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:42977400-42977800	Active TSS	Fetal Brain Male	brain
19	chr3:42977400-42977800	Enhancers	Stomach Mucosa	stomach
20	chr3:42977400-42977800	Flanking Active TSS	HMEC	breast
21	chr3:42977400-42978200	Active TSS	Brain Cingulate Gyrus	brain
22	chr3:42977400-42978200	Active TSS	Fetal Lung	lung
23	chr3:42977400-42978400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr3:42977400-42978400	Active TSS	Adipose Nuclei	Adipose
25	chr3:42977400-42978400	Active TSS	Brain Germinal Matrix	brain
26	chr3:42977400-42978400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:42977400-42978400	Active TSS	Colon Smooth Muscle	Colon
28	chr3:42977400-42978400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr3:42977400-42978400	Active TSS	Fetal Intestine Small	intestine
30	chr3:42977400-42978400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr3:42977400-42978400	Active TSS	Right Atrium	heart
32	chr3:42977400-42978400	Active TSS	NHDF-Ad	bronchial
33	chr3:42977400-42978600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:42977400-42978600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:42977400-42978600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:42977400-42978600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:42977400-42978600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:42977400-42978600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr3:42977400-42978600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr3:42977400-42978600	Active TSS	Fetal Kidney	kidney
41	chr3:42977400-42978600	Active TSS	Osteobl	bone
42	chr3:42977600-42977800	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr3:42977600-42977800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:42977600-42977800	Active TSS	Gastric	stomach
45	chr3:42977600-42977800	Flanking Active TSS	Pancreas	Pancrea
46	chr3:42977600-42977800	Bivalent/Poised TSS	K562	blood
47	chr3:42977600-42978000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr3:42977600-42978000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
49	chr3:42977600-42978200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:42977600-42978200	Active TSS	Muscle Satellite Cultured Cells	--

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