Variant report

Variant	rs8072971
Chromosome Location	chr17:17391443-17391444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17389683..17393183-chr17:17396173..17400344,4	K562	blood:
2	chr17:17384547..17387384-chr17:17390768..17392757,2	MCF-7	breast:
3	chr17:17389215..17391542-chr17:17392709..17394489,2	K562	blood:
4	chr17:17380272..17389088-chr17:17391260..17395887,13	K562	blood:
5	chr17:17391389..17393219-chr17:17395298..17398255,3	K562	blood:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction
ENSG00000141026	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11653380	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1242491	0.84[YRI][hapmap]
rs1242497	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1242504	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1242516	0.84[ASN][1000 genomes]
rs4646409	0.80[EUR][1000 genomes]
rs4924892	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv827909	chr17:17358945-17394331	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv907737	chr17:17388167-17411030	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17381200-17394200	Weak transcription	Ovary	ovary
2	chr17:17381200-17394400	Weak transcription	Aorta	Aorta
3	chr17:17381200-17395400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:17381200-17397000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:17381400-17392200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:17381400-17394400	Weak transcription	Colonic Mucosa	Colon
7	chr17:17381400-17397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr17:17381600-17394800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr17:17381800-17393800	Weak transcription	Fetal Lung	lung
10	chr17:17381800-17396200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:17381800-17397200	Weak transcription	NH-A	brain
12	chr17:17382400-17396400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:17382600-17397800	Weak transcription	Stomach Mucosa	stomach
14	chr17:17384000-17398000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:17384400-17392400	Weak transcription	Fetal Brain Male	brain
16	chr17:17384600-17392800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:17384600-17393600	Weak transcription	Lung	lung
18	chr17:17384600-17394400	Weak transcription	Pancreas	Pancrea
19	chr17:17384600-17396800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr17:17385600-17392400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr17:17386600-17391800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:17386600-17396400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:17386600-17397400	Strong transcription	Fetal Intestine Small	intestine
24	chr17:17386600-17397800	Strong transcription	Fetal Stomach	stomach
25	chr17:17387200-17392400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:17387600-17391800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:17388000-17398600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr17:17388200-17392000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:17388200-17392200	Strong transcription	Fetal Muscle Leg	muscle
30	chr17:17388200-17392800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:17388200-17394000	Weak transcription	HSMMtube	muscle
32	chr17:17388200-17396400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:17388200-17396400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr17:17388200-17396600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:17388200-17398000	Weak transcription	Small Intestine	intestine
36	chr17:17388200-17398200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:17388400-17393200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr17:17388400-17393200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:17388600-17392400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr17:17388600-17393200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr17:17388800-17391600	Strong transcription	Colon Smooth Muscle	Colon
42	chr17:17389200-17394200	Weak transcription	Esophagus	oesophagus
43	chr17:17389200-17397000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:17389400-17391600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr17:17389400-17391600	Weak transcription	HepG2	liver
46	chr17:17389400-17394000	Weak transcription	Brain Anterior Caudate	brain
47	chr17:17389400-17394200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr17:17389400-17394200	Weak transcription	Gastric	stomach
49	chr17:17389400-17394600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:17389600-17391600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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