Variant report

Variant	rs11079780
Chromosome Location	chr17:45650756-45650757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1136613	0.81[ASN][1000 genomes]
rs1136614	0.81[ASN][1000 genomes]
rs16969984	0.81[ASN][1000 genomes]
rs3968305	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56767960	0.83[ASN][1000 genomes]
rs59583855	0.81[ASN][1000 genomes]
rs59866241	0.81[ASN][1000 genomes]
rs59911216	0.81[ASN][1000 genomes]
rs60476385	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8071832	0.81[ASN][1000 genomes]
rs9789082	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 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	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
30	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
31	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
32	esv1810470	chr17:45619935-45670038	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
33	esv1809970	chr17:45628335-45664846	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
34	esv1805152	chr17:45630082-45670038	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
35	esv995713	chr17:45632210-45673517	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
36	esv1843304	chr17:45634173-45670038	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
37	esv1851806	chr17:45634173-45670038	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
38	esv1851394	chr17:45634373-45668909	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
39	esv1851549	chr17:45634373-45668909	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
40	esv1851900	chr17:45634373-45673592	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
41	esv1851117	chr17:45635179-45671051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
42	esv1847040	chr17:45635179-45683095	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	nsv828034	chr17:45637321-45667518	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
44	nsv962335	chr17:45645901-45669882	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
45	esv3495089	chr17:45647003-45656601	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
46	esv3495090	chr17:45647003-45656601	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
47	esv3425719	chr17:45649353-45655351	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
48	esv1799225	chr17:45650581-45670822	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
49	esv1806457	chr17:45650700-45664846	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45670600	Weak transcription	Lung	lung
2	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
3	chr17:45610000-45676800	Weak transcription	Ovary	ovary
4	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
6	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr17:45610600-45662200	Weak transcription	HSMM	muscle
8	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:45610800-45669000	Weak transcription	NH-A	brain
11	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
12	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
14	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
15	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
18	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
20	chr17:45625000-45668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr17:45625200-45667200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr17:45625200-45670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:45629600-45667400	Weak transcription	Left Ventricle	heart
24	chr17:45629800-45673400	Weak transcription	K562	blood
25	chr17:45635400-45670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr17:45637400-45667200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr17:45637400-45669000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr17:45637400-45670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:45637800-45678800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:45638000-45667400	Weak transcription	Primary T cells from cord blood	blood
31	chr17:45638000-45667400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:45638200-45667400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr17:45638800-45669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:45639200-45656400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr17:45639400-45659200	Weak transcription	Liver	Liver
36	chr17:45639400-45659400	Weak transcription	A549	lung
37	chr17:45639600-45675000	Weak transcription	Brain Angular Gyrus	brain
38	chr17:45639800-45676800	Weak transcription	Brain Anterior Caudate	brain
39	chr17:45641000-45678000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr17:45641400-45675000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr17:45644200-45675200	Weak transcription	GM12878-XiMat	blood
42	chr17:45644400-45683800	Weak transcription	Spleen	Spleen
43	chr17:45644600-45673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr17:45644600-45673600	Weak transcription	Hela-S3	cervix
45	chr17:45645000-45673800	Weak transcription	HMEC	breast
46	chr17:45645600-45678200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:45647800-45660400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:45647800-45660400	Weak transcription	Fetal Intestine Large	intestine
49	chr17:45647800-45660600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr17:45647800-45662800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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