Variant report

Variant	rs17139331
Chromosome Location	chr7:116729116-116729117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116658647..116661998-chr7:116727258..116730529,3	K562	blood:
2	7:116728195-116740907..7:117341506-117356953	Hela-S3	cervix:
3	chr7:116592967..116594634-chr7:116728820..116730432,2	K562	blood:
4	7:116580605-116585719..7:116728195-116740907	GM12878	blood:
5	chr7:116653330..116656369-chr7:116726309..116729331,3	K562	blood:
6	chr7:116727325..116729299-chr7:116756273..116758689,2	K562	blood:
7	chr7:116725745..116729201-chr7:116729217..116731336,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222150	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000226367	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2188694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3758629	0.80[ASN][1000 genomes]
rs6961817	0.87[CEU][hapmap]
rs739557	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116713200-116730800	Weak transcription	Aorta	Aorta
2	chr7:116715800-116731800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:116717200-116744400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:116717400-116736200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:116717600-116730400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:116723000-116730200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:116723000-116738000	Weak transcription	NHLF	lung
8	chr7:116723200-116738000	Weak transcription	Ovary	ovary
9	chr7:116724000-116730400	Weak transcription	Lung	lung
10	chr7:116724200-116731000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:116724200-116744200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:116724400-116730800	Weak transcription	Esophagus	oesophagus
13	chr7:116724400-116731800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:116724400-116750400	Weak transcription	Fetal Lung	lung
15	chr7:116724600-116730400	Weak transcription	Pancreas	Pancrea
16	chr7:116724600-116730800	Weak transcription	Gastric	stomach
17	chr7:116725400-116729400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:116725400-116766400	Weak transcription	Brain Germinal Matrix	brain
19	chr7:116725600-116731000	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:116725800-116730400	Weak transcription	Brain Anterior Caudate	brain
21	chr7:116726200-116736200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:116726800-116729200	Enhancers	Fetal Heart	heart
23	chr7:116726800-116729200	Enhancers	Fetal Thymus	thymus
24	chr7:116726800-116729200	Enhancers	Thymus	Thymus
25	chr7:116726800-116729400	Enhancers	Dnd41	blood
26	chr7:116727000-116730400	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:116727200-116738000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:116727600-116729200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:116727600-116729200	Enhancers	Stomach Mucosa	stomach
30	chr7:116727600-116729400	Enhancers	Duodenum Mucosa	Duodenum
31	chr7:116727600-116729400	Enhancers	Fetal Intestine Small	intestine
32	chr7:116727800-116729200	Enhancers	Fetal Intestine Large	intestine
33	chr7:116727800-116737600	Weak transcription	HepG2	liver
34	chr7:116728000-116730400	Weak transcription	Psoas Muscle	Psoas
35	chr7:116728200-116729200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:116728200-116730400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:116728200-116731800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr7:116728200-116731800	Weak transcription	NHDF-Ad	bronchial
39	chr7:116728200-116732000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:116728200-116738000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:116728200-116738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:116728200-116738000	Weak transcription	HSMMtube	muscle
43	chr7:116728200-116738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:116728200-116738200	Weak transcription	Spleen	Spleen
45	chr7:116728200-116741000	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:116728200-116750600	Weak transcription	Small Intestine	intestine
47	chr7:116728400-116729400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:116728400-116730800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:116728400-116731800	Strong transcription	GM12878-XiMat	blood
50	chr7:116728400-116732400	Weak transcription	Adipose Nuclei	Adipose

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