Variant report

Variant	rs9916070
Chromosome Location	chr17:59997860-59997861
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59994780..60000369-chr17:60000911..60007000,12	K562	blood:
2	chr17:59501828..59503917-chr17:59996111..59998118,2	MCF-7	breast:
3	chr17:59995985..59999406-chr17:60001386..60004929,4	K562	blood:

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10401014	1.00[TSI][hapmap]
rs28431006	0.91[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs4988342	1.00[TSI][hapmap]
rs6504075	1.00[TSI][hapmap]
rs7212824	0.91[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs7212884	1.00[TSI][hapmap]
rs7213026	1.00[TSI][hapmap]
rs7217530	0.90[YRI][hapmap]
rs7222876	1.00[TSI][hapmap]
rs7226248	1.00[TSI][hapmap]
rs8068267	0.86[ASW][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs8069386	1.00[TSI][hapmap]
rs9892063	1.00[TSI][hapmap]
rs9899042	1.00[TSI][hapmap]
rs9899780	0.80[LWK][hapmap];1.00[TSI][hapmap]
rs9909145	0.91[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs9909882	1.00[TSI][hapmap]
rs9913351	0.91[LWK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59941400-60004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:59941400-60004400	Weak transcription	Aorta	Aorta
3	chr17:59941400-60004400	Weak transcription	Pancreas	Pancrea
4	chr17:59941600-60003600	Weak transcription	Stomach Mucosa	stomach
5	chr17:59941600-60004400	Weak transcription	Colonic Mucosa	Colon
6	chr17:59942600-60002800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:59954400-60003800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:59959600-60003600	Weak transcription	Fetal Heart	heart
9	chr17:59966000-60004200	Weak transcription	Psoas Muscle	Psoas
10	chr17:59966200-59998000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:59975400-60004600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:59978600-60004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:59980200-60003600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:59982600-60001400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:59982600-60003600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr17:59983600-60004600	Weak transcription	Spleen	Spleen
17	chr17:59984200-60003400	Weak transcription	HSMMtube	muscle
18	chr17:59985000-60004400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:59987800-60002600	Weak transcription	NHEK	skin
20	chr17:59989000-60001600	Weak transcription	Brain Germinal Matrix	brain
21	chr17:59989200-59998000	Weak transcription	Fetal Kidney	kidney
22	chr17:59989200-59998600	Weak transcription	HMEC	breast
23	chr17:59989200-60001400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr17:59989200-60003400	Weak transcription	Colon Smooth Muscle	Colon
25	chr17:59989400-60001400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:59989400-60003800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:59989400-60003800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr17:59989400-60004400	Weak transcription	Lung	lung
29	chr17:59989600-59998200	Weak transcription	NHDF-Ad	bronchial
30	chr17:59989600-59998600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr17:59989600-60003600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:59989600-60003600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:59989600-60003600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:59989600-60003800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr17:59989600-60003800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr17:59989600-60003800	Weak transcription	Right Ventricle	heart
37	chr17:59989600-60003800	Weak transcription	HUVEC	blood vessel
38	chr17:59989600-60003800	Weak transcription	K562	blood
39	chr17:59989600-60003800	Weak transcription	NHLF	lung
40	chr17:59991800-60002200	Weak transcription	Hela-S3	cervix
41	chr17:59992800-60002800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr17:59993000-59999800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:59993800-59999800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr17:59993800-60002800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:59994000-59999400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:59994000-59999600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:59994000-59999600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr17:59994000-60000200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr17:59994000-60002400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:59994000-60002800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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