Variant report

Variant	rs2236938
Chromosome Location	chr3:45938939-45938940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45888141..45889967-chr3:45938093..45939850,2	K562	blood:
2	chr3:45936711..45939307-chr3:45956614..45959025,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163818	Chromatin interaction

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

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

rs_ID	r²[population]
rs12054287	0.83[CHB][hapmap]
rs17078387	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs17078398	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2191031	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2286486	0.86[CHD][hapmap]
rs3764864	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3774641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs58819318	0.85[ASN][1000 genomes]
rs59104991	0.85[ASN][1000 genomes]
rs62245079	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62245094	0.82[ASN][1000 genomes]
rs62245096	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62245101	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6441929	0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45923400-45948200	Weak transcription	Right Atrium	heart
2	chr3:45925200-45949600	Weak transcription	Pancreas	Pancrea
3	chr3:45925600-45947800	Genic enhancers	Dnd41	blood
4	chr3:45932400-45960200	Weak transcription	Fetal Intestine Small	intestine
5	chr3:45934000-45960200	Weak transcription	Right Ventricle	heart
6	chr3:45934600-45946200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:45935400-45941200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:45935400-45945000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:45936000-45947600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:45936200-45939400	Enhancers	Hela-S3	cervix
11	chr3:45936400-45939200	Enhancers	HMEC	breast
12	chr3:45936600-45940200	Genic enhancers	Thymus	Thymus
13	chr3:45936600-45945800	Weak transcription	Primary B cells from cord blood	blood
14	chr3:45936600-45950200	Genic enhancers	Fetal Thymus	thymus
15	chr3:45936800-45939600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:45936800-45941000	Weak transcription	Primary T cells from cord blood	blood
17	chr3:45936800-45946200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:45937400-45939200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:45937600-45939000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:45937600-45939000	Enhancers	Fetal Lung	lung
21	chr3:45937600-45939200	Enhancers	Placenta	Placenta
22	chr3:45937800-45939000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:45937800-45939200	Enhancers	Fetal Stomach	stomach
24	chr3:45937800-45939400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:45937800-45939400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:45937800-45939400	Enhancers	Esophagus	oesophagus
27	chr3:45938000-45939000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:45938000-45939000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:45938000-45939000	Enhancers	NHLF	lung
30	chr3:45938200-45939000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:45938200-45939000	Enhancers	Stomach Smooth Muscle	stomach
32	chr3:45938200-45939200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:45938200-45941000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:45938400-45939200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:45938400-45939800	Strong transcription	Aorta	Aorta
36	chr3:45938600-45949000	Weak transcription	Small Intestine	intestine
37	chr3:45938800-45939200	Weak transcription	NH-A	brain

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