Variant report

Variant	rs6963146
Chromosome Location	chr7:137571931-137571932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137570597..137573428-chr7:137582615..137585579,3	K562	blood:
2	chr7:137570646..137572266-chr7:137577966..137580275,2	K562	blood:
3	chr7:137569917..137572586-chr7:137572838..137575553,3	K562	blood:
4	chr7:137545557..137547633-chr7:137570311..137573208,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1677499	0.94[CHB][hapmap];0.81[CHD][hapmap];0.81[ASN][1000 genomes]
rs2007564	0.83[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs273934	0.91[AFR][1000 genomes]
rs273935	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs273937	0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs273942	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs273944	0.93[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.86[LWK][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137555600-137583200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr7:137556000-137573600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:137557800-137583800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:137558400-137579200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
7	chr7:137559400-137575200	Strong transcription	HepG2	liver
8	chr7:137561000-137577000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:137563200-137572200	Strong transcription	Colonic Mucosa	Colon
10	chr7:137563400-137575200	Weak transcription	Psoas Muscle	Psoas
11	chr7:137564600-137575400	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr7:137565200-137574200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:137567200-137583800	Strong transcription	Liver	Liver
14	chr7:137567400-137572400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr7:137567400-137580200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:137567400-137583400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:137567400-137583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:137567400-137584000	Strong transcription	Fetal Intestine Large	intestine
19	chr7:137567600-137573800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:137567800-137573000	Strong transcription	GM12878-XiMat	blood
21	chr7:137568000-137572000	Strong transcription	K562	blood
22	chr7:137568000-137572000	Genic enhancers	Osteobl	bone
23	chr7:137568000-137572200	Genic enhancers	NH-A	brain
24	chr7:137568000-137573200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:137568000-137573400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:137568000-137574200	Strong transcription	Fetal Intestine Small	intestine
27	chr7:137568000-137584200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:137568600-137575200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:137568600-137584000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:137568800-137578800	Weak transcription	Fetal Kidney	kidney
31	chr7:137569400-137572000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:137569600-137574200	Genic enhancers	Placenta	Placenta
33	chr7:137569800-137572200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:137570000-137572000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
35	chr7:137570000-137573600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:137570200-137574400	Weak transcription	Dnd41	blood
37	chr7:137570200-137575200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr7:137570200-137575200	Weak transcription	NHDF-Ad	bronchial
39	chr7:137570200-137577800	Weak transcription	Small Intestine	intestine
40	chr7:137570200-137578600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:137570200-137578600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:137570200-137579800	Weak transcription	A549	lung
43	chr7:137570400-137572000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:137570400-137572000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:137570400-137572000	Enhancers	Colon Smooth Muscle	Colon
46	chr7:137570400-137572200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:137570400-137572200	Enhancers	Fetal Heart	heart
48	chr7:137570400-137572200	Enhancers	Rectal Smooth Muscle	rectum
49	chr7:137570400-137573200	Weak transcription	Pancreas	Pancrea
50	chr7:137570400-137573200	Weak transcription	Right Atrium	heart

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