Variant report

Variant	rs4768118
Chromosome Location	chr12:46784744-46784745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:46784483-46785133	HepG2	liver:	n/a	chr12:46785119-46785133
2	TBP	chr12:46784049-46785383	GM12878	blood:	n/a	n/a
3	NFIC	chr12:46784541-46785091	HepG2	liver:	n/a	n/a
4	FOXA1	chr12:46784562-46784966	HepG2	liver:	n/a	n/a
5	WRNIP1	chr12:46784485-46785059	GM12878	blood:	n/a	n/a
6	FOXA2	chr12:46784652-46784828	HepG2	liver:	n/a	n/a
7	BATF	chr12:46784616-46785046	GM12878	blood:	n/a	n/a
8	ARID3A	chr12:46784638-46784965	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46782810..46784901-chr12:46849696..46851269,2	MCF-7	breast:
2	chr12:46784468..46786236-chr20:55203268..55205812,2	MCF-7	breast:
3	chr12:46782004..46784906-chr12:46849046..46851285,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARID2-12	chr12:46782639-46785909	NONHSAT027878

No data

Variant related genes	Relation type
ENSG00000257496	TF binding region
ENSG00000087510	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10467213	0.81[AMR][1000 genomes]
rs10748448	0.90[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10748450	0.84[EUR][1000 genomes]
rs10785627	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10785628	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs10785629	0.84[EUR][1000 genomes]
rs1079780	0.83[AMR][1000 genomes]
rs10880947	0.84[MEX][hapmap]
rs10880966	0.91[AMR][1000 genomes]
rs10880967	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880968	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10880969	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880970	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880971	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880973	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs10880974	0.80[CHB][hapmap]
rs11183454	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs11183467	1.00[YRI][hapmap]
rs11183478	0.95[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11183479	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11183482	1.00[YRI][hapmap]
rs11183483	0.95[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11183484	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11183486	0.95[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183488	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11183504	0.89[MEX][hapmap]
rs1125909	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11561535	0.84[AMR][1000 genomes]
rs12099669	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12298616	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12299499	1.00[YRI][hapmap]
rs12313929	0.80[CHB][hapmap]
rs12314541	0.95[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12319162	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12321512	1.00[YRI][hapmap]
rs12813763	0.89[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes]
rs12814298	0.82[AMR][1000 genomes]
rs12814341	0.85[AMR][1000 genomes]
rs12816358	0.83[AMR][1000 genomes]
rs12822345	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12824565	0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12832425	0.85[AMR][1000 genomes]
rs12832777	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13377959	1.00[YRI][hapmap]
rs1472178	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1472179	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1492895	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17096884	0.81[YRI][hapmap]
rs17096922	1.00[YRI][hapmap]
rs2131371	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2220727	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2408497	0.90[AMR][1000 genomes]
rs2408498	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2408504	0.81[AMR][1000 genomes]
rs2408507	0.81[AMR][1000 genomes]
rs2897951	0.95[CEU][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2897968	0.80[AMR][1000 genomes]
rs3936214	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4072304	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4076247	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4077707	0.90[CEU][hapmap];0.89[CHD][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs4077708	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4258438	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4427617	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4586238	0.81[AMR][1000 genomes]
rs4768119	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768121	0.84[AMR][1000 genomes]
rs4768122	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768123	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs4768696	0.83[AMR][1000 genomes]
rs4768699	0.87[CEU][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap]
rs4768709	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768710	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768711	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768712	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768713	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768714	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768715	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768716	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768717	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768718	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768719	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768723	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4768724	0.84[EUR][1000 genomes]
rs4768725	0.84[EUR][1000 genomes]
rs4768727	0.80[CHB][hapmap];0.84[CHD][hapmap];0.94[MEX][hapmap]
rs4768730	0.80[CHB][hapmap];0.87[CHD][hapmap];0.94[MEX][hapmap]
rs6582636	0.83[CEU][hapmap]
rs6582641	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6582642	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6582643	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6582645	0.95[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6582646	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6582657	0.95[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs6582658	0.95[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs6582663	0.80[CHB][hapmap]
rs7134289	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7301001	0.84[AMR][1000 genomes]
rs7311504	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7312259	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7316127	0.84[MEX][hapmap]
rs73282591	0.84[AFR][1000 genomes]
rs7485580	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7485599	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7486495	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7486532	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7486580	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7487828	0.81[AMR][1000 genomes]
rs7487877	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7488144	0.84[CHB][hapmap]
rs7488450	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7489242	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7954314	0.85[LWK][hapmap];1.00[YRI][hapmap]
rs7954645	0.80[CHB][hapmap]
rs7956314	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs7958774	0.81[AMR][1000 genomes]
rs7959731	0.83[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7964767	0.80[CHB][hapmap]
rs7967889	0.95[YRI][hapmap]
rs7968897	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7976280	0.83[TSI][hapmap];0.90[AMR][1000 genomes]
rs7979418	0.80[AMR][1000 genomes]
rs7980775	0.85[MEX][hapmap]
rs923788	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs9669404	0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9706460	0.80[CHB][hapmap]
rs9971879	0.88[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46778200-46784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:46778400-46786800	Enhancers	NHDF-Ad	bronchial
3	chr12:46778600-46785400	Enhancers	Adipose Nuclei	Adipose
4	chr12:46778600-46787000	Enhancers	Fetal Lung	lung
5	chr12:46778800-46797200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:46779600-46786000	Weak transcription	Gastric	stomach
7	chr12:46779600-46786400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:46779600-46786400	Weak transcription	Right Ventricle	heart
9	chr12:46779600-46802800	Weak transcription	Pancreas	Pancrea
10	chr12:46780600-46786800	Weak transcription	Brain Substantia Nigra	brain
11	chr12:46780600-46788600	Weak transcription	Fetal Brain Male	brain
12	chr12:46780800-46785600	Enhancers	Liver	Liver
13	chr12:46781000-46785600	Flanking Active TSS	GM12878-XiMat	blood
14	chr12:46781200-46785600	Enhancers	HUVEC	blood vessel
15	chr12:46781400-46786600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:46781400-46787000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:46781400-46787200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:46781600-46789200	Weak transcription	Fetal Stomach	stomach
19	chr12:46781600-46795400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:46781800-46784800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:46781800-46784800	Weak transcription	Esophagus	oesophagus
22	chr12:46781800-46784800	Weak transcription	Lung	lung
23	chr12:46781800-46785000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:46781800-46785200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:46781800-46785400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:46781800-46785600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:46781800-46786400	Weak transcription	Colonic Mucosa	Colon
28	chr12:46781800-46786400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:46781800-46786400	Weak transcription	Left Ventricle	heart
30	chr12:46781800-46786600	Enhancers	NHLF	lung
31	chr12:46781800-46795000	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:46782000-46784800	Weak transcription	Right Atrium	heart
33	chr12:46782000-46784800	Weak transcription	Spleen	Spleen
34	chr12:46782000-46785000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:46782000-46785000	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:46782000-46785000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:46782000-46787200	Enhancers	Hela-S3	cervix
38	chr12:46782000-46794600	Weak transcription	Fetal Kidney	kidney
39	chr12:46782000-46794600	Weak transcription	Placenta	Placenta
40	chr12:46782000-46794600	Weak transcription	Psoas Muscle	Psoas
41	chr12:46782400-46792600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:46782800-46796600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:46783000-46786000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:46783000-46786800	Enhancers	Osteobl	bone
45	chr12:46783000-46794200	Weak transcription	Thymus	Thymus
46	chr12:46783200-46784800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:46783200-46786600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:46783200-46790800	Weak transcription	Ovary	ovary
49	chr12:46783200-46795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:46783200-46796200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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