Variant report

Variant	rs7112229
Chromosome Location	chr11:46513249-46513250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46507863..46510166-chr11:46511411..46513736,3	MCF-7	breast:
2	chr11:46511440..46513599-chr11:46521171..46522703,2	MCF-7	breast:
3	chr11:46511827..46514698-chr11:46548924..46550458,2	K562	blood:
4	chr11:46512258..46514447-chr11:46514678..46518100,3	MCF-7	breast:
5	chr11:46402070..46406146-chr11:46510121..46513301,3	K562	blood:
6	chr11:46497976..46500290-chr11:46511742..46513861,2	K562	blood:
7	chr11:46412420..46414324-chr11:46511342..46513973,2	K562	blood:

Variant related genes	Relation type
ENSG00000110492	Chromatin interaction
ENSG00000110497	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10160701	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10838602	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038897	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038900	0.98[EUR][1000 genomes]
rs11038906	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038914	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038919	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038927	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11819869	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272795	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12283172	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12292425	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12295266	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12573978	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574250	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12574259	0.85[CEU][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap]
rs12574668	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12575519	0.94[EUR][1000 genomes]
rs12576115	0.94[EUR][1000 genomes]
rs12576317	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12576359	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12577142	0.94[EUR][1000 genomes]
rs12578042	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1472001	0.94[ASW][hapmap];0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.96[TSI][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1489192	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16938506	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17197116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2046768	0.93[CEU][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2067482	0.98[EUR][1000 genomes]
rs2171667	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2171668	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2279465	0.93[CEU][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2291487	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2864072	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2864076	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2902858	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34406563	0.93[CEU][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs35324223	0.83[EUR][1000 genomes]
rs35623865	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs3740974	0.96[EUR][1000 genomes]
rs3740977	0.93[CEU][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs3802888	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809047	0.85[JPT][hapmap]
rs4307676	0.85[EUR][1000 genomes]
rs4319473	0.85[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs55657382	0.89[EUR][1000 genomes]
rs55661562	0.89[EUR][1000 genomes]
rs55750336	0.91[ASN][1000 genomes]
rs57535407	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58147945	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59319338	0.95[EUR][1000 genomes]
rs60722866	0.86[EUR][1000 genomes]
rs60932698	0.87[EUR][1000 genomes]
rs61882674	0.82[EUR][1000 genomes]
rs61882678	0.88[EUR][1000 genomes]
rs61882682	0.96[EUR][1000 genomes]
rs61882683	0.93[EUR][1000 genomes]
rs61882691	0.96[EUR][1000 genomes]
rs61882701	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882702	0.98[EUR][1000 genomes]
rs61882706	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61882709	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882710	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882711	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882712	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882720	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882743	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882746	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882748	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882750	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882756	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882757	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882758	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884262	0.83[EUR][1000 genomes]
rs61884264	0.89[EUR][1000 genomes]
rs61884271	0.87[EUR][1000 genomes]
rs61884273	0.85[EUR][1000 genomes]
rs61884274	0.85[EUR][1000 genomes]
rs6485682	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6485685	0.89[EUR][1000 genomes]
rs7108770	0.87[EUR][1000 genomes]
rs7109698	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7122039	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7125907	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126316	0.84[EUR][1000 genomes]
rs7126343	0.85[EUR][1000 genomes]
rs7127529	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7128092	0.85[EUR][1000 genomes]
rs7130141	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73449983	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7481312	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7484002	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs756343	0.91[ASN][1000 genomes]
rs7924401	0.90[EUR][1000 genomes]
rs7926389	0.85[CEU][hapmap]
rs7930103	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7932866	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7936413	0.93[CEU][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7946705	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7951579	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7951870	0.93[CEU][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs876701	0.81[ASW][hapmap];0.93[CEU][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:46465000-46513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:46479000-46513400	Weak transcription	Spleen	Spleen
4	chr11:46479000-46525600	Weak transcription	Lung	lung
5	chr11:46486200-46525800	Weak transcription	Fetal Brain Female	brain
6	chr11:46486400-46513600	Weak transcription	Esophagus	oesophagus
7	chr11:46486600-46518800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:46487400-46514200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:46487600-46513600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:46487600-46514200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:46487600-46515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:46488200-46513400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:46488200-46515000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:46490200-46525800	Weak transcription	Aorta	Aorta
15	chr11:46492800-46513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:46494400-46513600	Weak transcription	Brain Angular Gyrus	brain
17	chr11:46494400-46515000	Weak transcription	NH-A	brain
18	chr11:46494800-46515000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:46494800-46519800	Weak transcription	Psoas Muscle	Psoas
20	chr11:46495200-46514800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:46497600-46537600	Weak transcription	A549	lung
22	chr11:46498000-46513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:46498400-46513400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:46499800-46513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:46500200-46514800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:46502800-46513600	Weak transcription	Right Atrium	heart
27	chr11:46503000-46513400	Weak transcription	Pancreas	Pancrea
28	chr11:46503000-46515200	Weak transcription	Ovary	ovary
29	chr11:46503400-46563000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:46505000-46526800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:46505200-46514600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:46506600-46526400	Weak transcription	NHLF	lung
33	chr11:46507600-46513400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:46507600-46513600	Weak transcription	Small Intestine	intestine
35	chr11:46507600-46519000	Weak transcription	Right Ventricle	heart
36	chr11:46507800-46529600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:46507800-46529600	Weak transcription	Stomach Mucosa	stomach
38	chr11:46508000-46513400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:46508000-46513400	Weak transcription	Brain Substantia Nigra	brain
40	chr11:46508000-46513400	Weak transcription	Fetal Intestine Small	intestine
41	chr11:46508200-46513400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:46508200-46515000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:46508200-46525600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:46508800-46513400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:46509600-46537200	Strong transcription	Primary T cells from cord blood	blood
46	chr11:46510400-46526800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:46511000-46513600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:46511000-46513800	Strong transcription	Hela-S3	cervix
49	chr11:46511000-46514400	Enhancers	Colon Smooth Muscle	Colon
50	chr11:46511000-46514800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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