Variant report

Variant	rs3940274
Chromosome Location	chr17:20157633-20157634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11654025	0.88[ASN][1000 genomes]
rs11870381	0.83[ASN][1000 genomes]
rs12451216	0.80[ASN][1000 genomes]
rs17686798	0.80[ASN][1000 genomes]
rs17759959	0.82[ASN][1000 genomes]
rs2034110	0.96[ASN][1000 genomes]
rs4924808	0.80[ASN][1000 genomes]
rs57146223	0.88[ASN][1000 genomes]
rs7223363	0.95[ASN][1000 genomes]
rs7225249	0.84[ASN][1000 genomes]
rs8066705	0.83[ASN][1000 genomes]
rs8074791	0.83[ASN][1000 genomes]
rs972966	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064854	chr17:20086562-20225751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2761953	chr17:20086562-20225763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1063833	chr17:20088333-20206601	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
13	nsv1065363	chr17:20118499-20162888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1059774	chr17:20118499-20163560	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1062124	chr17:20139384-20206601	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv543261	chr17:20139384-20206601	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20111600-20166000	Weak transcription	Right Ventricle	heart
2	chr17:20129200-20161600	Weak transcription	Fetal Brain Female	brain
3	chr17:20129600-20161600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:20130600-20161200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr17:20130600-20170000	Weak transcription	K562	blood
6	chr17:20130600-20170200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr17:20131800-20164400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr17:20136200-20161600	Weak transcription	Lung	lung
9	chr17:20136400-20160800	Weak transcription	Fetal Stomach	stomach
10	chr17:20136400-20161200	Weak transcription	Fetal Lung	lung
11	chr17:20136400-20209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:20138400-20165200	Weak transcription	Primary B cells from cord blood	blood
13	chr17:20140400-20160800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr17:20148200-20165000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:20148200-20165600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:20148400-20161200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr17:20148400-20161600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:20148400-20161600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:20148600-20157800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:20148600-20160400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:20148600-20161400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:20150000-20160800	Weak transcription	HSMMtube	muscle
23	chr17:20150400-20161400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr17:20150400-20170200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:20150800-20165600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:20151200-20164000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr17:20151600-20160800	Weak transcription	Spleen	Spleen
28	chr17:20151600-20161000	Weak transcription	Left Ventricle	heart
29	chr17:20151600-20164400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr17:20151600-20170800	Weak transcription	GM12878-XiMat	blood
31	chr17:20151600-20190000	Weak transcription	Colonic Mucosa	Colon
32	chr17:20151800-20158400	Weak transcription	Aorta	Aorta
33	chr17:20151800-20161000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:20151800-20161200	Weak transcription	Pancreas	Pancrea
35	chr17:20151800-20165800	Weak transcription	HMEC	breast
36	chr17:20151800-20167000	Weak transcription	NH-A	brain
37	chr17:20152000-20159800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:20152000-20160200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr17:20152000-20160800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr17:20152000-20161000	Weak transcription	Adipose Nuclei	Adipose
41	chr17:20152000-20161200	Weak transcription	NHEK	skin
42	chr17:20152800-20157800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr17:20152800-20160600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:20152800-20169800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr17:20152800-20176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:20153000-20160800	Weak transcription	Brain Germinal Matrix	brain
47	chr17:20153000-20161000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr17:20153600-20159600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr17:20153600-20160400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:20153600-20160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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