Variant report

Variant	rs8079202
Chromosome Location	chr17:38409230-38409231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38406516-38409743	K562	blood:	n/a	n/a

Variant related genes	Relation type
WIPF2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2227320	1.00[AMR][1000 genomes]
rs2227327	1.00[AMR][1000 genomes]
rs2227328	1.00[AMR][1000 genomes]
rs4135013	1.00[AMR][1000 genomes]
rs4135025	1.00[AMR][1000 genomes]
rs57554435	1.00[AMR][1000 genomes]
rs58089096	1.00[AMR][1000 genomes]
rs61225269	1.00[AMR][1000 genomes]
rs7208267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305019	1.00[AMR][1000 genomes]
rs8077256	1.00[AFR][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	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38376600-38412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:38376600-38416800	Weak transcription	Aorta	Aorta
3	chr17:38377000-38418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:38377600-38412800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr17:38379200-38413000	Weak transcription	Pancreas	Pancrea
6	chr17:38381200-38412400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:38382000-38412400	Weak transcription	Fetal Lung	lung
8	chr17:38390200-38412200	Weak transcription	HepG2	liver
9	chr17:38390200-38413000	Weak transcription	Colonic Mucosa	Colon
10	chr17:38390800-38416600	Weak transcription	Gastric	stomach
11	chr17:38391000-38409800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:38391000-38412400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr17:38391000-38412600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:38391000-38412600	Weak transcription	Placenta	Placenta
15	chr17:38391200-38412200	Weak transcription	Fetal Thymus	thymus
16	chr17:38391200-38412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:38391200-38412600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:38391200-38413600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr17:38391200-38416800	Weak transcription	Esophagus	oesophagus
20	chr17:38391400-38413600	Weak transcription	Spleen	Spleen
21	chr17:38391400-38414600	Weak transcription	Primary B cells from cord blood	blood
22	chr17:38392000-38412600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:38392600-38412600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:38392800-38412200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr17:38392800-38412600	Weak transcription	Left Ventricle	heart
26	chr17:38392800-38413400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:38393800-38412600	Weak transcription	Fetal Muscle Leg	muscle
28	chr17:38393800-38413000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:38396400-38411000	Weak transcription	Fetal Stomach	stomach
30	chr17:38398200-38412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr17:38400800-38412600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:38401400-38412400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr17:38401600-38412400	Weak transcription	Primary T cells from cord blood	blood
34	chr17:38401600-38412400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr17:38401600-38412600	Weak transcription	Liver	Liver
36	chr17:38402000-38412600	Weak transcription	Lung	lung
37	chr17:38402200-38412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:38402400-38412400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr17:38402400-38412400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:38402400-38412800	Weak transcription	GM12878-XiMat	blood
41	chr17:38402600-38411600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr17:38403000-38412400	Weak transcription	Dnd41	blood
43	chr17:38403400-38412600	Weak transcription	Thymus	Thymus
44	chr17:38404000-38412400	Weak transcription	Fetal Brain Female	brain
45	chr17:38405000-38412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr17:38405400-38412200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr17:38405600-38412400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:38405800-38412400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:38405800-38412400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr17:38406800-38416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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