Variant report

Variant	rs34894439
Chromosome Location	chr17:45633376-45633377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11540824	1.00[MEX][hapmap]
rs12450731	1.00[MKK][hapmap]
rs2277612	0.94[MKK][hapmap]
rs2317818	1.00[MKK][hapmap]
rs7223649	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv833468	chr17:45511563-45683164	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1793478	chr17:45518444-45671051	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	esv1808961	chr17:45542951-45664746	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	esv33689	chr17:45551959-45664575	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv471513	chr17:45552080-45671439	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv908570	chr17:45571502-45684651	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv1818529	chr17:45583088-45683095	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv471403	chr17:45608444-45700642	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv482203	chr17:45608444-45700642	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
21	esv1811254	chr17:45609466-45673592	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv1808701	chr17:45610793-45675401	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv821341	chr17:45611031-45671632	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv828033	chr17:45611031-45671632	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv1814312	chr17:45611212-45683095	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv9568	chr17:45613661-45672773	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv12768	chr17:45616210-45671173	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv514851	chr17:45616237-45663269	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv821688	chr17:45616396-45637602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv1807916	chr17:45616653-45668909	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	esv1815163	chr17:45616653-45675272	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	esv1809431	chr17:45619018-45670038	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	esv1810470	chr17:45619935-45670038	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
34	esv1809970	chr17:45628335-45664846	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
35	esv1805152	chr17:45630082-45670038	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
36	esv3396027	chr17:45630353-45634451	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
37	esv995713	chr17:45632210-45673517	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
38	nsv978434	chr17:45632564-45645901	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45638600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr17:45610000-45639000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr17:45610000-45670600	Weak transcription	Lung	lung
4	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
5	chr17:45610000-45676800	Weak transcription	Ovary	ovary
6	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:45610400-45633800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:45610400-45637600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:45610400-45637800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:45610400-45639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:45610400-45646800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:45610400-45647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:45610400-45647600	Weak transcription	Osteobl	bone
15	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
16	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:45610600-45637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:45610600-45647000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr17:45610600-45647000	Weak transcription	Dnd41	blood
20	chr17:45610600-45662200	Weak transcription	HSMM	muscle
21	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:45610800-45669000	Weak transcription	NH-A	brain
24	chr17:45611000-45647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:45611200-45647600	Weak transcription	HSMMtube	muscle
26	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
27	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:45617000-45647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45617000-45647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:45617600-45637200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:45617600-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:45618000-45649200	Weak transcription	Right Ventricle	heart
33	chr17:45618600-45637600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:45618600-45639000	Weak transcription	Brain Anterior Caudate	brain
35	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
36	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
37	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:45621800-45647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:45622000-45637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:45622000-45647600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
43	chr17:45622600-45637200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
46	chr17:45624200-45647000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr17:45625000-45637200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr17:45625000-45637200	Weak transcription	HepG2	liver
49	chr17:45625000-45641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:45625000-45647000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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