Variant report

Variant	rs12317255
Chromosome Location	chr12:46853833-46853834
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46852729..46855589-chr12:46856810..46858940,4	MCF-7	breast:
2	chr12:46850217..46852233-chr12:46852801..46856137,3	K562	blood:
3	chr12:46763417..46765337-chr12:46853370..46857226,3	K562	blood:
4	chr12:46853187..46855713-chr12:46867709..46870623,2	K562	blood:
5	chr12:46751305..46752826-chr12:46853204..46855628,2	K562	blood:
6	chr12:46853746..46855838-chr12:46858067..46859819,2	MCF-7	breast:
7	chr12:46749869..46752805-chr12:46853204..46855890,2	K562	blood:
8	chr12:46851276..46855951-chr12:46856514..46861457,9	K562	blood:
9	chr12:46848665..46851619-chr12:46853781..46857683,5	MCF-7	breast:
10	chr12:46852229..46855814-chr12:46857217..46861777,7	K562	blood:
11	chr12:46841282..46844144-chr12:46852953..46855040,2	K562	blood:
12	chr12:46765219..46768267-chr12:46847099..46854235,10	MCF-7	breast:
13	chr12:46662340..46664615-chr12:46852453..46854760,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10467215	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs10506267	0.83[CHB][hapmap]
rs11183454	0.88[CHB][hapmap];1.00[AMR][1000 genomes]
rs11183467	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs11183482	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183500	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs11183510	0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs11183512	0.97[ASN][1000 genomes]
rs11183513	0.97[ASN][1000 genomes]
rs1125908	0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[AMR][1000 genomes]
rs11830080	1.00[EUR][1000 genomes]
rs11834905	1.00[AMR][1000 genomes]
rs11837634	1.00[EUR][1000 genomes]
rs12296783	0.95[ASN][1000 genomes]
rs12299499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317179	0.96[ASN][1000 genomes]
rs12320438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321468	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs12321512	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12321642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321960	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs12322378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13377959	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17096884	0.88[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes]
rs17096896	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17096922	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17096998	0.88[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2085682	1.00[EUR][1000 genomes]
rs2125646	0.83[CHB][hapmap]
rs2307062	0.88[CHB][hapmap];0.86[CHD][hapmap]
rs2307063	0.88[CHB][hapmap]
rs2408509	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs34098443	0.97[ASN][1000 genomes]
rs34280632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35875247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36010856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742061	0.88[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes]
rs3935048	0.88[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs56036156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56160202	1.00[EUR][1000 genomes]
rs56196954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56314009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57425661	1.00[AMR][1000 genomes]
rs58127062	0.91[ASN][1000 genomes]
rs58353248	0.91[ASN][1000 genomes]
rs58460251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58890669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59608605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60565802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60878594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61406609	1.00[AMR][1000 genomes]
rs7313172	0.88[ASN][1000 genomes]
rs73282591	1.00[AMR][1000 genomes]
rs73290315	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74082237	1.00[EUR][1000 genomes]
rs74082254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082263	1.00[EUR][1000 genomes]
rs74082274	1.00[EUR][1000 genomes]
rs74083758	1.00[EUR][1000 genomes]
rs7488027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953339	0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7954314	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7965618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7967889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977319	1.00[AMR][1000 genomes]
rs7980023	0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs923788	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:46844600-46854000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:46844600-46854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:46844600-46854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:46844600-46855200	Weak transcription	Right Ventricle	heart
6	chr12:46844600-46866000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:46844800-46855200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:46845400-46855600	Enhancers	HepG2	liver
10	chr12:46849800-46854000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:46850000-46854000	Weak transcription	Gastric	stomach
12	chr12:46850000-46854600	Weak transcription	Psoas Muscle	Psoas
13	chr12:46850000-46860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:46850200-46854400	Weak transcription	Small Intestine	intestine
15	chr12:46850200-46854800	Weak transcription	Fetal Kidney	kidney
16	chr12:46850200-46855200	Weak transcription	HSMMtube	muscle
17	chr12:46850400-46855200	Weak transcription	HSMM	muscle
18	chr12:46850400-46855800	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:46850400-46855800	Weak transcription	HMEC	breast
20	chr12:46850600-46854600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:46850600-46855000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:46850600-46859200	Weak transcription	Stomach Mucosa	stomach
23	chr12:46850800-46854600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:46851000-46854800	Weak transcription	A549	lung
25	chr12:46851400-46854000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:46851600-46855400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:46851600-46855400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:46851800-46854000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:46851800-46854200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:46851800-46854800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:46851800-46854800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:46851800-46855400	Enhancers	Primary hematopoietic stem cells	blood
33	chr12:46852000-46854000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:46852000-46854000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr12:46852000-46854200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:46852000-46854400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:46852000-46854600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:46852000-46855400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:46852200-46854800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:46852200-46854800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr12:46852200-46855400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:46852400-46854200	Enhancers	HUVEC	blood vessel
43	chr12:46852400-46854800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr12:46852400-46854800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:46852400-46854800	Enhancers	Fetal Thymus	thymus
46	chr12:46852400-46855600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:46852400-46856200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:46852800-46854000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:46852800-46854200	Enhancers	Adipose Nuclei	Adipose
50	chr12:46852800-46854800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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