Variant report

Variant	rs7976280
Chromosome Location	chr12:46800825-46800826
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46793862..46797366-chr12:46798440..46803120,6	MCF-7	breast:
2	chr12:46778278..46780739-chr12:46799465..46801687,2	K562	blood:
3	chr12:46762602..46765130-chr12:46800260..46802192,2	K562	blood:
4	chr12:46777352..46780040-chr12:46800402..46802585,2	MCF-7	breast:
5	chr12:46800362..46803961-chr12:46808441..46811398,3	K562	blood:
6	chr12:46794174..46798124-chr12:46799495..46805327,7	K562	blood:
7	chr12:46749940..46752646-chr12:46799282..46801675,2	MCF-7	breast:
8	chr12:46795533..46798124-chr12:46799552..46803946,3	K562	blood:
9	chr12:46798219..46802284-chr12:46803095..46805948,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10467213	0.83[AMR][1000 genomes]
rs10748448	0.92[AMR][1000 genomes]
rs10785627	0.88[AMR][1000 genomes]
rs1079780	0.83[AMR][1000 genomes]
rs10880961	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10880962	0.80[JPT][hapmap]
rs10880966	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880967	0.90[AMR][1000 genomes]
rs10880968	0.88[AMR][1000 genomes]
rs10880969	0.85[AMR][1000 genomes]
rs10880970	0.84[AMR][1000 genomes]
rs11183468	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs11183478	0.83[TSI][hapmap];0.85[AMR][1000 genomes]
rs11183479	0.85[AMR][1000 genomes]
rs11183483	0.82[TSI][hapmap];0.85[AMR][1000 genomes]
rs11183484	0.82[AMR][1000 genomes]
rs11183486	0.80[AMR][1000 genomes]
rs1125909	0.88[AMR][1000 genomes]
rs11534993	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12099669	0.88[AMR][1000 genomes]
rs12314541	0.92[AMR][1000 genomes]
rs12319162	0.82[AMR][1000 genomes]
rs12813763	0.89[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12814298	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12814341	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12816358	0.83[AMR][1000 genomes]
rs12822345	0.81[AMR][1000 genomes]
rs12824565	0.83[TSI][hapmap];0.81[AMR][1000 genomes]
rs12832425	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12832777	0.81[AMR][1000 genomes]
rs1472178	0.82[TSI][hapmap];0.88[AMR][1000 genomes]
rs1472179	0.88[AMR][1000 genomes]
rs1492895	0.91[AMR][1000 genomes]
rs1873793	0.86[CHD][hapmap]
rs2131371	0.82[TSI][hapmap];0.90[AMR][1000 genomes]
rs2220727	0.89[AMR][1000 genomes]
rs2408497	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408498	0.94[AMR][1000 genomes]
rs2408504	0.83[AMR][1000 genomes]
rs2408507	0.81[AMR][1000 genomes]
rs2897951	0.91[AMR][1000 genomes]
rs2897968	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3782904	0.84[CEU][hapmap];0.90[CHD][hapmap]
rs3936214	0.80[AMR][1000 genomes]
rs4072304	0.85[AMR][1000 genomes]
rs4076247	0.84[AMR][1000 genomes]
rs4076248	0.92[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs4076484	0.82[EUR][1000 genomes]
rs4077708	0.83[TSI][hapmap]
rs4258438	0.89[AMR][1000 genomes]
rs4427617	0.90[AMR][1000 genomes]
rs4586238	0.83[AMR][1000 genomes]
rs4768118	0.83[TSI][hapmap];0.90[AMR][1000 genomes]
rs4768119	0.89[AMR][1000 genomes]
rs4768121	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768122	0.81[AMR][1000 genomes]
rs4768123	0.83[TSI][hapmap]
rs4768696	0.83[AMR][1000 genomes]
rs4768698	0.84[CEU][hapmap];0.90[CHD][hapmap]
rs4768709	0.89[AMR][1000 genomes]
rs4768710	0.91[AMR][1000 genomes]
rs4768711	0.85[AMR][1000 genomes]
rs4768712	0.90[AMR][1000 genomes]
rs4768713	0.90[AMR][1000 genomes]
rs4768714	0.90[AMR][1000 genomes]
rs4768715	0.82[AMR][1000 genomes]
rs4768716	0.83[TSI][hapmap];0.81[AMR][1000 genomes]
rs4768717	0.84[AMR][1000 genomes]
rs4768718	0.84[AMR][1000 genomes]
rs4768723	0.83[TSI][hapmap]
rs6582641	0.89[AMR][1000 genomes]
rs6582642	0.84[AMR][1000 genomes]
rs6582643	0.84[AMR][1000 genomes]
rs6582645	0.89[AMR][1000 genomes]
rs6582646	0.85[AMR][1000 genomes]
rs6582656	0.92[CEU][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap]
rs6582657	0.82[TSI][hapmap]
rs7134289	0.82[AMR][1000 genomes]
rs7301001	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311504	0.84[AMR][1000 genomes]
rs7312259	0.90[AMR][1000 genomes]
rs7485580	0.84[AMR][1000 genomes]
rs7485599	0.81[AMR][1000 genomes]
rs7486495	0.88[AMR][1000 genomes]
rs7486580	0.88[AMR][1000 genomes]
rs7487075	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7487877	0.86[AMR][1000 genomes]
rs7488450	0.85[AMR][1000 genomes]
rs7489242	0.85[AMR][1000 genomes]
rs7958774	0.83[AMR][1000 genomes]
rs7959731	0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs7960147	0.84[CEU][hapmap]
rs7961994	0.84[CEU][hapmap]
rs7968173	0.84[CEU][hapmap]
rs7968283	0.84[CEU][hapmap]
rs7968897	0.88[AMR][1000 genomes]
rs7974529	0.84[CEU][hapmap];0.90[CHD][hapmap]
rs7979418	0.88[CEU][hapmap];0.80[AMR][1000 genomes]
rs956910	0.84[CEU][hapmap];0.90[CHD][hapmap]
rs9669404	0.82[TSI][hapmap];0.94[AMR][1000 genomes]
rs9971879	0.83[TSI][hapmap];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46779600-46802800	Weak transcription	Pancreas	Pancrea
2	chr12:46793800-46801200	Enhancers	Dnd41	blood
3	chr12:46794800-46802200	Weak transcription	Placenta	Placenta
4	chr12:46795000-46809200	Weak transcription	Esophagus	oesophagus
5	chr12:46795800-46804000	Weak transcription	Right Ventricle	heart
6	chr12:46797000-46819800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:46797600-46801200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:46797600-46802000	Weak transcription	Aorta	Aorta
9	chr12:46797800-46805400	Weak transcription	HepG2	liver
10	chr12:46798400-46802000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:46798400-46802400	Weak transcription	Fetal Lung	lung
12	chr12:46798600-46801600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:46798600-46801800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:46798600-46802000	Weak transcription	Fetal Stomach	stomach
15	chr12:46798600-46802000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:46798600-46802200	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:46798600-46802200	Weak transcription	Left Ventricle	heart
18	chr12:46798600-46802600	Weak transcription	HUVEC	blood vessel
19	chr12:46798600-46807200	Weak transcription	Small Intestine	intestine
20	chr12:46798800-46801600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:46798800-46802800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:46798800-46804000	Weak transcription	Hela-S3	cervix
23	chr12:46798800-46805800	Weak transcription	Primary B cells from cord blood	blood
24	chr12:46798800-46806800	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:46799000-46804400	Weak transcription	NHLF	lung
26	chr12:46799000-46809200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:46799400-46802000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:46799800-46801600	Enhancers	NH-A	brain
29	chr12:46800200-46801000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:46800200-46801600	Enhancers	Osteobl	bone
31	chr12:46800200-46802000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:46800200-46802600	Enhancers	Fetal Heart	heart
33	chr12:46800400-46801000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:46800600-46801000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:46800600-46801400	Enhancers	NHEK	skin
36	chr12:46800600-46801800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:46800600-46802000	Enhancers	HMEC	breast
38	chr12:46800800-46801200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:46800800-46801600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:46800800-46802000	Weak transcription	Right Atrium	heart
41	chr12:46800800-46802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:46800800-46803200	Weak transcription	Adipose Nuclei	Adipose
43	chr12:46800800-46804200	Weak transcription	Psoas Muscle	Psoas

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