Variant report

Variant	rs12667392
Chromosome Location	chr7:6151682-6151683
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6144020..6147563-chr7:6150112..6152871,4	MCF-7	breast:
2	chr7:6143739..6147263-chr7:6147410..6152468,7	K562	blood:
3	chr7:6151627..6154487-chr7:6159088..6161082,3	K562	blood:
4	chr7:6151184..6155498-chr7:6158937..6162352,4	K562	blood:
5	chr7:6142931..6146749-chr7:6148381..6152637,7	K562	blood:

Variant related genes	Relation type
ENSG00000106346	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10046499	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10216107	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10224504	1.00[JPT][hapmap]
rs10225119	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10226743	1.00[ASW][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.95[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10228155	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10228389	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10228430	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10240510	1.00[JPT][hapmap]
rs10241174	1.00[JPT][hapmap]
rs10242394	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10244640	1.00[JPT][hapmap]
rs10245186	1.00[JPT][hapmap]
rs10246266	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10247585	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10250285	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10252947	1.00[JPT][hapmap]
rs10253501	1.00[JPT][hapmap]
rs10254689	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10255598	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10255662	1.00[JPT][hapmap]
rs10255914	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10255918	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10257181	0.97[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10257248	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10257654	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10257971	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10261217	1.00[JPT][hapmap]
rs10261466	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10267982	1.00[JPT][hapmap]
rs10275021	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10279137	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10280585	0.87[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10282278	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11768047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768749	1.00[JPT][hapmap]
rs11770730	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12667323	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13437890	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17136048	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28385378	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28575447	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28589289	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28758696	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28880007	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34123833	0.81[ASN][1000 genomes]
rs60892137	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61750868	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61753115	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61753118	0.82[ASN][1000 genomes]
rs6463540	1.00[JPT][hapmap]
rs6463541	1.00[JPT][hapmap]
rs6463544	1.00[JPT][hapmap]
rs6942707	1.00[JPT][hapmap]
rs6944071	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6946205	1.00[JPT][hapmap]
rs6949823	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6955065	1.00[JPT][hapmap]
rs6960965	1.00[JPT][hapmap]
rs6962767	1.00[JPT][hapmap]
rs6969814	1.00[JPT][hapmap]
rs6969863	1.00[JPT][hapmap]
rs7777433	1.00[JPT][hapmap]
rs7780269	1.00[JPT][hapmap]
rs7783018	1.00[JPT][hapmap]
rs7784130	1.00[MEX][hapmap]
rs7786473	1.00[MEX][hapmap]
rs7791225	1.00[JPT][hapmap]
rs7796322	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7800777	1.00[JPT][hapmap]
rs7807841	1.00[JPT][hapmap]
rs958329	1.00[JPT][hapmap]
rs9655493	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
12	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6145600-6152200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:6145600-6155000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:6145600-6186000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:6145600-6186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:6145800-6152600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:6145800-6152800	Weak transcription	Small Intestine	intestine
7	chr7:6146000-6152000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:6146200-6152000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:6146200-6152600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:6146200-6152800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:6146200-6155000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:6146400-6152800	Weak transcription	Aorta	Aorta
13	chr7:6146400-6157600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:6146400-6158800	Weak transcription	Esophagus	oesophagus
15	chr7:6146400-6159400	Weak transcription	Gastric	stomach
16	chr7:6146400-6159800	Weak transcription	Pancreas	Pancrea
17	chr7:6146600-6152800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:6146600-6152800	Weak transcription	Right Ventricle	heart
19	chr7:6146600-6154800	Weak transcription	Psoas Muscle	Psoas
20	chr7:6146600-6155000	Weak transcription	Colonic Mucosa	Colon
21	chr7:6146600-6155000	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:6146600-6155000	Weak transcription	Fetal Brain Male	brain
23	chr7:6146800-6152000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:6146800-6152000	Weak transcription	Brain Angular Gyrus	brain
25	chr7:6146800-6152000	Weak transcription	Fetal Lung	lung
26	chr7:6146800-6152200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:6146800-6152200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:6146800-6152200	Weak transcription	HSMM	muscle
29	chr7:6146800-6152200	Weak transcription	NH-A	brain
30	chr7:6146800-6152400	Weak transcription	Brain Anterior Caudate	brain
31	chr7:6146800-6152400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:6146800-6152600	Weak transcription	HMEC	breast
33	chr7:6146800-6152800	Weak transcription	NHLF	lung
34	chr7:6146800-6153000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:6146800-6153600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:6146800-6155000	Weak transcription	Fetal Kidney	kidney
37	chr7:6146800-6155000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:6146800-6155000	Weak transcription	NHDF-Ad	bronchial
39	chr7:6146800-6155200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:6146800-6156400	Weak transcription	Fetal Heart	heart
41	chr7:6146800-6157000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
43	chr7:6147000-6151800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:6147000-6152000	Weak transcription	Fetal Brain Female	brain
45	chr7:6147000-6152200	Weak transcription	Adipose Nuclei	Adipose
46	chr7:6147000-6152200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:6147000-6152800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:6147000-6152800	Weak transcription	A549	lung
49	chr7:6147000-6154600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:6147000-6154800	Weak transcription	Brain Cingulate Gyrus	brain

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