Variant report

Variant	rs17100618
Chromosome Location	chr12:65123258-65123259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12824259	1.00[CEU][hapmap]
rs17100600	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap]
rs17100604	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap]
rs17100611	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs17100671	1.00[ASW][hapmap];0.94[LWK][hapmap]
rs17100696	1.00[ASW][hapmap];0.94[LWK][hapmap]
rs17100705	1.00[ASW][hapmap]
rs17100711	1.00[ASW][hapmap];0.94[LWK][hapmap]
rs17100715	1.00[ASW][hapmap];0.94[LWK][hapmap]
rs73323462	0.87[AFR][1000 genomes]
rs9888397	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65106400-65123800	Strong transcription	Liver	Liver
2	chr12:65106400-65152600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:65106600-65125800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:65108400-65123400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:65108400-65127400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:65110600-65138400	Weak transcription	Stomach Mucosa	stomach
7	chr12:65111000-65127200	Weak transcription	Hela-S3	cervix
8	chr12:65111600-65146800	Strong transcription	Fetal Intestine Large	intestine
9	chr12:65113000-65124000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:65113400-65123600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:65113800-65123400	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:65114200-65124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:65115000-65123800	Weak transcription	GM12878-XiMat	blood
14	chr12:65115000-65130000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:65115400-65127600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:65115600-65123800	Weak transcription	HUVEC	blood vessel
17	chr12:65115600-65127800	Weak transcription	Esophagus	oesophagus
18	chr12:65115600-65132000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:65116400-65123800	Weak transcription	K562	blood
20	chr12:65116400-65124600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:65116600-65123800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:65116800-65124600	Weak transcription	NHLF	lung
23	chr12:65116800-65127200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:65116800-65127200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:65116800-65127600	Weak transcription	NH-A	brain
26	chr12:65116800-65127800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:65117000-65126600	Weak transcription	Fetal Thymus	thymus
28	chr12:65117000-65127200	Weak transcription	Colonic Mucosa	Colon
29	chr12:65117000-65127200	Weak transcription	HepG2	liver
30	chr12:65117000-65127200	Weak transcription	NHEK	skin
31	chr12:65117000-65127400	Weak transcription	Thymus	Thymus
32	chr12:65117000-65127600	Weak transcription	Brain Germinal Matrix	brain
33	chr12:65117000-65128200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:65117000-65129800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:65117000-65132800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:65117200-65124200	Weak transcription	Small Intestine	intestine
37	chr12:65117200-65124400	Weak transcription	Right Ventricle	heart
38	chr12:65117200-65124800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:65117200-65127400	Weak transcription	Psoas Muscle	Psoas
40	chr12:65117200-65127600	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:65117400-65123800	Weak transcription	Fetal Kidney	kidney
42	chr12:65117400-65127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:65117400-65129400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:65117600-65123400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:65117600-65123600	Weak transcription	NHDF-Ad	bronchial
46	chr12:65117600-65124400	Weak transcription	Pancreas	Pancrea
47	chr12:65117600-65127200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:65117600-65127200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:65117600-65127400	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:65117600-65127600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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