Variant report

Variant	rs7650193
Chromosome Location	chr3:119034756-119034757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119034010..119039174-chr3:119039543..119045383,10	K562	blood:
2	chr3:119028893..119037158-chr3:119037697..119043591,18	MCF-7	breast:
3	chr3:119032938..119036654-chr3:119043766..119046984,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000031081	Chromatin interaction
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1375134	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2044620	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7637171	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs935619	0.89[ASN][1000 genomes]

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv965394	chr3:119032370-119038786	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119015000-119041200	Weak transcription	Aorta	Aorta
2	chr3:119015200-119041000	Weak transcription	Fetal Kidney	kidney
3	chr3:119016000-119035400	Weak transcription	Fetal Brain Male	brain
4	chr3:119016000-119041000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:119016400-119040800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:119016400-119041000	Weak transcription	Fetal Intestine Small	intestine
7	chr3:119017400-119040600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr3:119019200-119040800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:119020400-119040600	Weak transcription	Esophagus	oesophagus
10	chr3:119021200-119041000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:119021200-119041000	Weak transcription	Fetal Thymus	thymus
12	chr3:119022200-119040800	Weak transcription	Brain Angular Gyrus	brain
13	chr3:119022400-119040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:119022400-119041000	Weak transcription	Primary B cells from cord blood	blood
15	chr3:119022400-119041000	Weak transcription	Fetal Intestine Large	intestine
16	chr3:119022400-119041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:119022600-119040600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:119024400-119040600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:119024800-119040600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:119024800-119041000	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:119024800-119041000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:119025000-119040800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:119027600-119041000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:119029400-119039000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:119029600-119041200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:119030000-119041000	Weak transcription	Brain Anterior Caudate	brain
27	chr3:119030000-119041200	Weak transcription	Gastric	stomach
28	chr3:119030200-119038800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:119030200-119041000	Weak transcription	Colonic Mucosa	Colon
30	chr3:119030600-119039000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:119030800-119038600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:119030800-119040400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:119030800-119040800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:119031000-119038200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:119031000-119040400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:119031000-119040600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:119031000-119040600	Weak transcription	NHDF-Ad	bronchial
38	chr3:119031000-119041000	Weak transcription	NHLF	lung
39	chr3:119031200-119040600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:119031200-119041000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:119031200-119041200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:119031400-119041000	Weak transcription	NHEK	skin
43	chr3:119032000-119035800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:119032200-119034800	Strong transcription	GM12878-XiMat	blood
45	chr3:119032400-119035400	Enhancers	Right Atrium	heart
46	chr3:119032800-119035000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr3:119033000-119035000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr3:119033200-119038600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:119033200-119040600	Weak transcription	Pancreas	Pancrea
50	chr3:119033200-119041000	Weak transcription	Thymus	Thymus

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