Variant report

Variant	rs17139383
Chromosome Location	chr7:116779594-116779595
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	chr7:116775590..116781476-chr7:116782578..116788226,8	K562	blood:
2	7:115847372-115857098..7:116778875-116779896	H1-hESC	embryonic stem cell:	embryo
3	chr7:116769743..116772310-chr7:116777915..116779667,2	MCF-7	breast:
4	7:115924626-115929516..7:116778875-116779896	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000105971	Chromatin interaction
ENSG00000237870	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000226367	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10266895	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.81[ASN][1000 genomes]
rs17139321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs17139357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.96[ASN][1000 genomes]
rs2301996	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs3758628	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs3808217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs3808220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.96[ASN][1000 genomes]
rs3808221	0.83[ASW][hapmap];0.89[LWK][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73477374	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116738400-116779600	Weak transcription	Esophagus	oesophagus
2	chr7:116754200-116797400	Weak transcription	Fetal Stomach	stomach
3	chr7:116765000-116782000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:116765000-116783000	Weak transcription	Fetal Intestine Small	intestine
5	chr7:116765000-116790200	Weak transcription	Psoas Muscle	Psoas
6	chr7:116765000-116792400	Weak transcription	Fetal Kidney	kidney
7	chr7:116765000-116797200	Weak transcription	Pancreas	Pancrea
8	chr7:116765400-116784200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:116765400-116791800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:116765400-116798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:116765600-116783000	Weak transcription	HepG2	liver
12	chr7:116767000-116797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:116767200-116797200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:116767400-116780400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:116767600-116797200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:116769800-116780600	Weak transcription	Fetal Heart	heart
17	chr7:116770800-116781200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:116771200-116783400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:116771400-116779800	Strong transcription	Brain Germinal Matrix	brain
20	chr7:116771800-116780000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:116773000-116791600	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:116773600-116783400	Weak transcription	NHEK	skin
23	chr7:116773600-116797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:116773800-116783200	Weak transcription	HMEC	breast
25	chr7:116774200-116779800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:116774200-116781200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:116774800-116783200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:116775000-116783000	Weak transcription	Spleen	Spleen
29	chr7:116775000-116786400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:116775200-116782800	Weak transcription	Lung	lung
31	chr7:116775200-116783000	Weak transcription	NH-A	brain
32	chr7:116775200-116790800	Weak transcription	Fetal Brain Male	brain
33	chr7:116775200-116791800	Weak transcription	Small Intestine	intestine
34	chr7:116775400-116783200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:116775400-116784000	Strong transcription	GM12878-XiMat	blood
36	chr7:116775600-116781800	Weak transcription	Osteobl	bone
37	chr7:116775600-116783600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:116775800-116780000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:116775800-116798000	Weak transcription	Hela-S3	cervix
40	chr7:116776000-116783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:116776200-116780800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:116776200-116788800	Weak transcription	Ovary	ovary
43	chr7:116776200-116797000	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:116776200-116797200	Weak transcription	Gastric	stomach
45	chr7:116776400-116781600	Weak transcription	Left Ventricle	heart
46	chr7:116776400-116783200	Weak transcription	A549	lung
47	chr7:116776400-116786400	Weak transcription	Brain Anterior Caudate	brain
48	chr7:116776400-116797200	Weak transcription	NHLF	lung
49	chr7:116776400-116830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:116776600-116781600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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