Variant report

Variant	rs6502563
Chromosome Location	chr17:17046736-17046737
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17046258..17049165-chr17:17140105..17142277,2	K562	blood:
2	chr17:17041398..17043468-chr17:17045137..17047861,3	K562	blood:

Variant related genes	Relation type
ENSG00000154803	Chromatin interaction
ENSG00000264187	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10852847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11078374	1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11867932	1.00[CHB][hapmap]
rs11871902	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271520	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2349646	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28461224	1.00[ASN][1000 genomes]
rs4247118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4247120	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4275914	1.00[ASN][1000 genomes]
rs4514740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4985696	1.00[ASN][1000 genomes]
rs4985701	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985717	1.00[ASN][1000 genomes]
rs4985718	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4985740	1.00[CHB][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4985746	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985778	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7206981	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207485	1.00[CHB][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7208929	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7208973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217091	1.00[CHB][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220827	1.00[CHB][hapmap]
rs7221842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7222311	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064550	0.93[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072184	1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8073842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8079563	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9893911	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9898995	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908767	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914671	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv984510	chr17:17015688-17048858	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv524958	chr17:17029718-17060805	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17029800-17088400	Strong transcription	Dnd41	blood
2	chr17:17030000-17048200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:17030000-17052200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr17:17030200-17051600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:17030200-17055000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr17:17030400-17047600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:17030400-17047800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:17030400-17055800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
11	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
13	chr17:17030600-17051000	Strong transcription	Colonic Mucosa	Colon
14	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr17:17031200-17057200	Strong transcription	Primary T cells from cord blood	blood
16	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr17:17031400-17051800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:17032000-17055000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
20	chr17:17032200-17048200	Weak transcription	Right Atrium	heart
21	chr17:17032200-17051800	Strong transcription	Pancreas	Pancrea
22	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:17032400-17051600	Strong transcription	Gastric	stomach
24	chr17:17033400-17051000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:17034200-17049400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:17034800-17072800	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr17:17036600-17050200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr17:17037200-17074200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:17038200-17051600	Strong transcription	Rectal Smooth Muscle	rectum
30	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
31	chr17:17038800-17048400	Weak transcription	Fetal Heart	heart
32	chr17:17038800-17058400	Weak transcription	Fetal Brain Male	brain
33	chr17:17039000-17048200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr17:17039400-17051800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:17039800-17047600	Strong transcription	Small Intestine	intestine
36	chr17:17040600-17047400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr17:17041400-17054200	Strong transcription	Hela-S3	cervix
38	chr17:17043000-17055200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr17:17043600-17050200	Weak transcription	Fetal Kidney	kidney
40	chr17:17043600-17051800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:17043800-17046800	Weak transcription	Aorta	Aorta
42	chr17:17043800-17047600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr17:17043800-17047800	Strong transcription	GM12878-XiMat	blood
44	chr17:17044000-17048400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr17:17044000-17050200	Strong transcription	Stomach Mucosa	stomach
46	chr17:17044000-17052800	Strong transcription	HSMMtube	muscle
47	chr17:17044200-17050200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:17044200-17053400	Strong transcription	NHLF	lung
49	chr17:17044200-17083600	Strong transcription	Thymus	Thymus
50	chr17:17044400-17047000	Weak transcription	NHDF-Ad	bronchial

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