Variant report

Variant	rs38848
Chromosome Location	chr7:116331370-116331371
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	chr7:116310780..116313731-chr7:116330603..116332752,2	MCF-7	breast:
2	chr7:116330911..116333571-chr7:116418026..116419769,2	MCF-7	breast:
3	chr7:116328540..116331637-chr7:116331640..116335151,3	MCF-7	breast:
4	7:115929516-115931284..7:116329363-116339031	H1-hESC	embryonic stem cell:	embryo
5	7:115847372-115857098..7:116329363-116339031	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000105971	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000105976	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10435378	0.82[JPT][hapmap]
rs16945	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs183642	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs193688	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2023748	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2237717	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2299439	0.82[JPT][hapmap]
rs35759345	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs38851	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38852	0.83[EUR][1000 genomes]
rs38854	0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38855	0.83[EUR][1000 genomes]
rs38859	0.83[CHB][hapmap]
rs39748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39749	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39750	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41735	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs41736	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs41737	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs41738	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs41739	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs41743	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs41746	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs41747	0.82[JPT][hapmap]
rs42336	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs6566	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs6951311	0.84[CHB][hapmap]
rs6978135	0.83[CHB][hapmap];0.81[JPT][hapmap]

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116314000-116331600	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:116323000-116336200	Weak transcription	Aorta	Aorta
3	chr7:116325800-116334400	Enhancers	HMEC	breast
4	chr7:116326200-116335400	Weak transcription	Fetal Stomach	stomach
5	chr7:116326600-116331600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:116326800-116334200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:116327000-116340000	Weak transcription	Lung	lung
8	chr7:116327400-116339200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:116327600-116333400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:116328000-116331600	Weak transcription	Psoas Muscle	Psoas
11	chr7:116328000-116333200	Weak transcription	Stomach Mucosa	stomach
12	chr7:116328200-116331600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:116328200-116333200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:116328200-116334200	Enhancers	Hela-S3	cervix
15	chr7:116328200-116339200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:116328200-116339400	Weak transcription	Pancreas	Pancrea
17	chr7:116328400-116331800	Enhancers	Osteobl	bone
18	chr7:116328600-116331600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:116328600-116331600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:116328600-116332600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:116328600-116332600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:116328600-116334000	Enhancers	NHDF-Ad	bronchial
23	chr7:116328600-116341200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:116328800-116333600	Enhancers	HSMM	muscle
25	chr7:116328800-116335000	Weak transcription	HepG2	liver
26	chr7:116329000-116331600	Weak transcription	Liver	Liver
27	chr7:116330000-116331600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:116330000-116332000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:116330000-116332000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr7:116330200-116332000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:116330400-116331600	Weak transcription	HUVEC	blood vessel
32	chr7:116330400-116332200	Genic enhancers	NHEK	skin
33	chr7:116330400-116335800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:116330600-116331600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:116330600-116331600	Enhancers	A549	lung
36	chr7:116330600-116331600	Weak transcription	NHLF	lung
37	chr7:116330600-116332000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:116330600-116333000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:116330600-116342200	Weak transcription	Fetal Lung	lung
40	chr7:116330800-116331600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:116331000-116331400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:116331000-116331400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:116331000-116331400	Weak transcription	HSMMtube	muscle
44	chr7:116331000-116331400	Weak transcription	NH-A	brain

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