Variant report

Variant	rs8071687
Chromosome Location	chr17:38339996-38339997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38333534..38336494-chr17:38338960..38341310,2	K562	blood:
2	chr17:38277221..38278971-chr17:38339983..38343711,3	MCF-7	breast:
3	chr17:38339993..38341691-chr17:38451589..38454528,2	MCF-7	breast:
4	chr17:38337957..38340919-chr17:38512994..38515226,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188895	Chromatin interaction
ENSG00000108352	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10512482	1.00[EUR][1000 genomes]
rs1104761	0.92[EUR][1000 genomes]
rs11540720	1.00[EUR][1000 genomes]
rs12103533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs15685	0.92[EUR][1000 genomes]
rs16965660	1.00[EUR][1000 genomes]
rs16965669	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965734	1.00[EUR][1000 genomes]
rs16965736	1.00[EUR][1000 genomes]
rs16965748	1.00[EUR][1000 genomes]
rs16965774	1.00[EUR][1000 genomes]
rs16965778	1.00[EUR][1000 genomes]
rs17616543	0.92[EUR][1000 genomes]
rs17616672	0.92[EUR][1000 genomes]
rs17616879	0.92[EUR][1000 genomes]
rs17617263	0.92[EUR][1000 genomes]
rs17678817	0.92[EUR][1000 genomes]
rs17678959	0.92[EUR][1000 genomes]
rs17678990	0.92[EUR][1000 genomes]
rs17679086	0.92[EUR][1000 genomes]
rs17679361	0.92[EUR][1000 genomes]
rs17680217	0.92[EUR][1000 genomes]
rs17680410	0.92[EUR][1000 genomes]
rs17680507	0.92[EUR][1000 genomes]
rs17680624	0.92[EUR][1000 genomes]
rs2012667	0.92[EUR][1000 genomes]
rs2229773	0.92[EUR][1000 genomes]
rs28362320	1.00[EUR][1000 genomes]
rs28362321	0.92[EUR][1000 genomes]
rs28526298	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33998939	0.92[EUR][1000 genomes]
rs34270904	1.00[EUR][1000 genomes]
rs34300454	1.00[EUR][1000 genomes]
rs35783632	0.92[EUR][1000 genomes]
rs35898909	0.92[EUR][1000 genomes]
rs41283417	1.00[EUR][1000 genomes]
rs41283423	0.92[EUR][1000 genomes]
rs4134993	0.92[EUR][1000 genomes]
rs4134998	0.92[EUR][1000 genomes]
rs4135005	0.92[EUR][1000 genomes]
rs4135007	0.92[EUR][1000 genomes]
rs4135012	0.92[EUR][1000 genomes]
rs4135019	0.92[EUR][1000 genomes]
rs4135021	0.92[EUR][1000 genomes]
rs4135027	0.92[EUR][1000 genomes]
rs4135030	0.92[EUR][1000 genomes]
rs45612441	0.92[EUR][1000 genomes]
rs8067519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077482	1.00[EUR][1000 genomes]
rs9889905	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9891944	0.92[EUR][1000 genomes]
rs9894364	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894807	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9898500	1.00[EUR][1000 genomes]
rs9899425	1.00[EUR][1000 genomes]
rs9900154	1.00[EUR][1000 genomes]
rs9903293	1.00[EUR][1000 genomes]
rs9906274	0.92[EUR][1000 genomes]
rs9909777	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909811	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9910373	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9915775	1.00[EUR][1000 genomes]

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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38333200-38347000	Weak transcription	Brain Substantia Nigra	brain
2	chr17:38333600-38347000	Weak transcription	Fetal Lung	lung
3	chr17:38334000-38341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:38334000-38347000	Weak transcription	HUVEC	blood vessel
5	chr17:38334200-38346800	Weak transcription	Spleen	Spleen
6	chr17:38334200-38347000	Weak transcription	GM12878-XiMat	blood
7	chr17:38334200-38347400	Weak transcription	Aorta	Aorta
8	chr17:38334400-38346800	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:38334400-38346800	Weak transcription	Ovary	ovary
10	chr17:38334600-38345200	Weak transcription	Right Ventricle	heart
11	chr17:38334600-38346600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr17:38334600-38346800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:38335000-38345000	Weak transcription	Brain Germinal Matrix	brain
14	chr17:38335000-38345400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:38335000-38346400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr17:38335200-38340400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:38335200-38346600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:38335200-38346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:38335200-38346800	Weak transcription	Thymus	Thymus
20	chr17:38335200-38347000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:38335200-38347800	Weak transcription	Small Intestine	intestine
22	chr17:38335400-38340400	Weak transcription	Fetal Brain Female	brain
23	chr17:38335400-38346800	Weak transcription	Fetal Brain Male	brain
24	chr17:38335400-38347000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:38336400-38347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:38336400-38347000	Weak transcription	NHDF-Ad	bronchial
27	chr17:38336400-38347000	Weak transcription	NHLF	lung
28	chr17:38336600-38346600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr17:38336600-38346600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:38336600-38346800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:38336800-38347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:38337000-38346400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:38337000-38346800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr17:38337000-38347000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:38337000-38347000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr17:38337000-38347000	Weak transcription	Osteobl	bone
37	chr17:38337200-38340600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:38337200-38340600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr17:38337200-38344600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr17:38337200-38345000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:38337200-38346600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr17:38337200-38346600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr17:38337200-38346600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr17:38337200-38347000	Weak transcription	Brain Angular Gyrus	brain
45	chr17:38337200-38347200	Weak transcription	NH-A	brain
46	chr17:38337400-38340400	Weak transcription	Esophagus	oesophagus
47	chr17:38337400-38340800	Weak transcription	HepG2	liver
48	chr17:38337400-38341000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:38337400-38341400	Weak transcription	A549	lung
50	chr17:38337400-38346600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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