Variant report

Variant	rs2317818
Chromosome Location	chr17:45670180-45670181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12450731	1.00[MKK][hapmap]
rs2277612	0.94[MKK][hapmap]
rs34894439	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:34 , 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	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	esv995713	chr17:45632210-45673517	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
28	esv1851900	chr17:45634373-45673592	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
29	esv1851117	chr17:45635179-45671051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
30	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
31	esv1799225	chr17:45650581-45670822	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
32	esv3326159	chr17:45664203-45671351	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
33	esv3437736	chr17:45666753-45671451	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
34	esv3346004	chr17:45666853-45671151	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

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	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
8	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
10	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
11	chr17:45625200-45670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:45629800-45673400	Weak transcription	K562	blood
13	chr17:45635400-45670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr17:45637400-45670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:45637800-45678800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:45639600-45675000	Weak transcription	Brain Angular Gyrus	brain
17	chr17:45639800-45676800	Weak transcription	Brain Anterior Caudate	brain
18	chr17:45641000-45678000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr17:45641400-45675000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr17:45644200-45675200	Weak transcription	GM12878-XiMat	blood
21	chr17:45644400-45683800	Weak transcription	Spleen	Spleen
22	chr17:45644600-45673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:45644600-45673600	Weak transcription	Hela-S3	cervix
24	chr17:45645000-45673800	Weak transcription	HMEC	breast
25	chr17:45645600-45678200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:45647800-45677000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:45647800-45684800	Weak transcription	Gastric	stomach
28	chr17:45648000-45670600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:45648000-45670600	Weak transcription	Osteobl	bone
30	chr17:45649600-45670200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr17:45649600-45675200	Weak transcription	Right Ventricle	heart
32	chr17:45650000-45673200	Weak transcription	HepG2	liver
33	chr17:45654800-45672800	Weak transcription	NHDF-Ad	bronchial
34	chr17:45657200-45688200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:45657400-45670600	Weak transcription	Colonic Mucosa	Colon
36	chr17:45657800-45678800	Weak transcription	NHEK	skin
37	chr17:45659000-45676800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:45659200-45678600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr17:45659200-45698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:45659600-45675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:45661400-45673400	Weak transcription	Brain Hippocampus Middle	brain
42	chr17:45661600-45670600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr17:45661600-45671000	Weak transcription	Brain Substantia Nigra	brain
44	chr17:45662600-45689800	Weak transcription	Psoas Muscle	Psoas
45	chr17:45662800-45675800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:45663200-45670600	Weak transcription	NHLF	lung
47	chr17:45663600-45677200	Weak transcription	Aorta	Aorta
48	chr17:45663800-45702800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr17:45664000-45677000	Weak transcription	Fetal Lung	lung
50	chr17:45664200-45671200	Weak transcription	Colon Smooth Muscle	Colon

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