Variant report

Variant	rs17095584
Chromosome Location	chr12:45658491-45658492
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45655142..45658052-chr12:45658399..45661222,2	MCF-7	breast:
2	chr12:45653059..45654770-chr12:45657488..45659097,2	MCF-7	breast:
3	chr12:45608097..45610261-chr12:45657663..45659259,2	K562	blood:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1025088	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap]
rs10492285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10736024	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs10785561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785564	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs11182947	0.95[AFR][1000 genomes]
rs11182949	0.88[LWK][hapmap];0.82[YRI][hapmap]
rs11182980	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap]
rs12578188	1.00[CEU][hapmap]
rs12578220	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs12578314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578982	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12579080	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs12580208	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12580320	1.00[CEU][hapmap]
rs12581525	1.00[CEU][hapmap]
rs12581554	1.00[CEU][hapmap]
rs12581841	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12582369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815577	0.82[LWK][hapmap];1.00[AFR][1000 genomes]
rs17095441	1.00[CEU][hapmap]
rs17095688	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap]
rs17095706	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap]
rs17095713	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17095716	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs17095721	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[GIH][hapmap]
rs17095722	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap]
rs17095723	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs17095736	1.00[CEU][hapmap]
rs17095784	1.00[CEU][hapmap]
rs17095866	1.00[CEU][hapmap]
rs17095888	1.00[CEU][hapmap]
rs17095911	1.00[CEU][hapmap]
rs1896027	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap]
rs2037856	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs2037857	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs3759079	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3920257	1.00[CEU][hapmap]
rs41331147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768087	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs4768600	1.00[CEU][hapmap]
rs4768606	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap]
rs59569841	0.89[AFR][1000 genomes]
rs60840825	0.89[AFR][1000 genomes]
rs6582542	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs7135029	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7136281	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap]
rs7304389	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap]
rs7304749	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap]
rs73275009	0.97[AFR][1000 genomes]
rs73275012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279680	0.85[AFR][1000 genomes]
rs73279683	0.89[AFR][1000 genomes]
rs73281425	0.89[AFR][1000 genomes]
rs73281431	0.84[AFR][1000 genomes]
rs73281433	0.83[AFR][1000 genomes]
rs73281436	0.87[AFR][1000 genomes]
rs73281453	0.89[AFR][1000 genomes]
rs73281454	0.89[AFR][1000 genomes]
rs73293382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:45651200-45662000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:45651400-45662000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:45651400-45662400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:45651400-45675600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:45651600-45662000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:45651600-45662400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:45651600-45667000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:45651600-45667400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:45651600-45674000	Weak transcription	Primary B cells from cord blood	blood
11	chr12:45653800-45662000	Weak transcription	Esophagus	oesophagus
12	chr12:45654200-45662000	Weak transcription	Right Ventricle	heart
13	chr12:45654200-45662000	Weak transcription	Spleen	Spleen
14	chr12:45654200-45662400	Weak transcription	Gastric	stomach
15	chr12:45654200-45666800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:45654400-45661800	Weak transcription	A549	lung
17	chr12:45654400-45662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:45654400-45662000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:45654400-45662000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:45654400-45662000	Weak transcription	Osteobl	bone
21	chr12:45654400-45662400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:45654400-45662400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:45654400-45662400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:45654400-45662400	Weak transcription	Fetal Stomach	stomach
25	chr12:45654400-45662400	Weak transcription	HSMM	muscle
26	chr12:45654400-45662400	Weak transcription	NH-A	brain
27	chr12:45654400-45662400	Weak transcription	NHLF	lung
28	chr12:45654400-45662600	Weak transcription	Stomach Mucosa	stomach
29	chr12:45654400-45666600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:45654400-45667600	Weak transcription	Primary T cells from cord blood	blood
31	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:45654600-45660800	Weak transcription	NHEK	skin
33	chr12:45654800-45661200	Weak transcription	HMEC	breast
34	chr12:45654800-45662000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:45655000-45659400	Weak transcription	Pancreas	Pancrea
36	chr12:45655000-45660400	Weak transcription	HUVEC	blood vessel
37	chr12:45655000-45662000	Weak transcription	Lung	lung
38	chr12:45655600-45660400	Weak transcription	Fetal Lung	lung
39	chr12:45655600-45661000	Weak transcription	Hela-S3	cervix
40	chr12:45655800-45661800	Weak transcription	Adipose Nuclei	Adipose
41	chr12:45656000-45662000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:45656400-45659800	Enhancers	Fetal Intestine Large	intestine
43	chr12:45656600-45659200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:45656600-45661000	Enhancers	Fetal Heart	heart
45	chr12:45656800-45660800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:45656800-45662400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:45657200-45658600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:45657200-45658800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:45657200-45662000	Weak transcription	Thymus	Thymus
50	chr12:45657400-45658800	Enhancers	Small Intestine	intestine

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