Variant report

Variant	rs8072184
Chromosome Location	chr17:17044781-17044782
allele	A/G
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	CTCF	chr17:17044639-17045765	A549	lung:	n/a	chr17:17045349-17045365 chr17:17044676-17044689 chr17:17044922-17044940 chr17:17045351-17045364 chr17:17045348-17045366

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17043821..17046160-chr17:17108071..17109890,2	MCF-7	breast:
2	chr17:17042215..17045044-chr17:17066488..17068871,2	K562	blood:

Variant related genes	Relation type
MPRIP	TF binding region
ENSG00000133030	Chromatin interaction
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10852847	1.00[CHB][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078376	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11656868	1.00[CHB][hapmap]
rs11867506	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11867932	1.00[CHB][hapmap]
rs11871902	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1974721	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2090018	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2271520	1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2349646	1.00[ASN][1000 genomes]
rs28461224	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4247118	1.00[CHB][hapmap];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	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985701	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4985702	1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4985717	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4985746	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4985778	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6502563	1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7206981	1.00[ASN][1000 genomes]
rs7207485	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7208929	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7208973	1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7217091	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7220827	1.00[CHB][hapmap]
rs7221842	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222311	1.00[ASN][1000 genomes]
rs8064550	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	1.00[ASN][1000 genomes]
rs9898995	1.00[ASN][1000 genomes]
rs9908767	1.00[ASN][1000 genomes]
rs9914671	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];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	chr17:17024600-17045600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:17029800-17088400	Strong transcription	Dnd41	blood
3	chr17:17030000-17048200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:17030000-17052200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr17:17030200-17051600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:17030200-17055000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr17:17030400-17044800	Strong transcription	Primary B cells from cord blood	blood
9	chr17:17030400-17047600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:17030400-17047800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:17030400-17055800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
13	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
15	chr17:17030600-17045000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr17:17030600-17051000	Strong transcription	Colonic Mucosa	Colon
17	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr17:17031200-17057200	Strong transcription	Primary T cells from cord blood	blood
19	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr17:17031400-17051800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:17032000-17055000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
23	chr17:17032200-17048200	Weak transcription	Right Atrium	heart
24	chr17:17032200-17051800	Strong transcription	Pancreas	Pancrea
25	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:17032400-17051600	Strong transcription	Gastric	stomach
27	chr17:17033000-17045000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr17:17033400-17051000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:17034200-17049400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:17034800-17072800	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr17:17036600-17050200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr17:17037200-17045600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:17037200-17074200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:17038200-17051600	Strong transcription	Rectal Smooth Muscle	rectum
35	chr17:17038400-17044800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
37	chr17:17038800-17048400	Weak transcription	Fetal Heart	heart
38	chr17:17038800-17058400	Weak transcription	Fetal Brain Male	brain
39	chr17:17039000-17048200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr17:17039200-17044800	Strong transcription	Colon Smooth Muscle	Colon
41	chr17:17039400-17051800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:17039800-17047600	Strong transcription	Small Intestine	intestine
43	chr17:17040200-17045000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:17040600-17044800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr17:17040600-17047400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr17:17041400-17054200	Strong transcription	Hela-S3	cervix
47	chr17:17041600-17045600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
48	chr17:17041800-17045800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:17042000-17045600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:17042200-17045800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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