Variant report

Variant	rs371348
Chromosome Location	chr1:220928376-220928377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220926710..220928570-chr1:220929149..220931113,2	MCF-7	breast:
2	chr1:220920532..220923272-chr1:220926936..220929369,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs11118602	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs11118603	1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11118604	0.89[CHB][hapmap]
rs1113125	1.00[EUR][1000 genomes]
rs11557506	1.00[EUR][1000 genomes]
rs12021979	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12023067	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs12023202	1.00[EUR][1000 genomes]
rs12023249	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12023303	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12023484	0.89[CHB][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12024252	1.00[EUR][1000 genomes]
rs12026135	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs12026176	1.00[EUR][1000 genomes]
rs12026612	1.00[EUR][1000 genomes]
rs12026813	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12027068	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12027298	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12027302	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12027337	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12028887	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12029901	0.82[JPT][hapmap]
rs12030190	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12030249	0.93[CHD][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12030434	0.93[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12030456	1.00[EUR][1000 genomes]
rs12031217	0.86[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs12031479	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12031951	1.00[EUR][1000 genomes]
rs12032061	0.89[CHB][hapmap]
rs12032336	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12033644	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12033645	1.00[EUR][1000 genomes]
rs12033732	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12033808	0.90[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12034685	1.00[EUR][1000 genomes]
rs12034691	1.00[EUR][1000 genomes]
rs12034995	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12035639	0.89[CHB][hapmap]
rs12038224	0.88[CHB][hapmap];0.93[CHD][hapmap]
rs12038621	0.86[ASN][1000 genomes]
rs12039043	0.80[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs12039064	0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs12039091	0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs12039436	1.00[EUR][1000 genomes]
rs12041919	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12041923	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12041952	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12041956	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12042585	1.00[JPT][hapmap]
rs12043169	0.89[ASN][1000 genomes]
rs12043238	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12044903	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12045050	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12045953	0.90[CHB][hapmap];0.93[CHD][hapmap]
rs12046425	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12046511	0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12046515	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12047809	1.00[EUR][1000 genomes]
rs12047899	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12048193	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12048740	1.00[EUR][1000 genomes]
rs12048861	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12049111	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12408093	1.00[MEX][hapmap]
rs1389745	1.00[EUR][1000 genomes]
rs1389746	1.00[EUR][1000 genomes]
rs1389747	1.00[EUR][1000 genomes]
rs17008639	1.00[EUR][1000 genomes]
rs17008644	1.00[EUR][1000 genomes]
rs17008646	1.00[EUR][1000 genomes]
rs17008649	0.83[EUR][1000 genomes]
rs17008667	1.00[EUR][1000 genomes]
rs17008670	1.00[EUR][1000 genomes]
rs17008680	0.93[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs182872	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1874115	0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs1874116	0.90[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap]
rs1874117	0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs1874123	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs1982894	1.00[EUR][1000 genomes]
rs1982895	1.00[EUR][1000 genomes]
rs2067632	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs2067633	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs2270535	0.90[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs2275574	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2275575	0.88[YRI][hapmap]
rs2642446	0.82[JPT][hapmap]
rs337137	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337138	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs337140	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337141	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337143	0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs337144	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35297838	1.00[JPT][hapmap]
rs3767324	0.85[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3795535	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3820349	0.84[ASN][1000 genomes]
rs3820350	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3820352	0.84[ASN][1000 genomes]
rs3820353	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3902885	1.00[EUR][1000 genomes]
rs4124596	1.00[EUR][1000 genomes]
rs419746	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs434188	0.94[YRI][hapmap]
rs447861	1.00[ASW][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4480363	1.00[EUR][1000 genomes]
rs449699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453079	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58538649	0.93[ASN][1000 genomes]
rs60183673	0.91[ASN][1000 genomes]
rs6671579	0.90[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs6687366	0.90[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs67065803	1.00[EUR][1000 genomes]
rs67889619	1.00[EUR][1000 genomes]
rs72472377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72472379	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72472380	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72472383	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72472384	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72472389	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72472390	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72472391	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72472392	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72472394	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72472398	1.00[EUR][1000 genomes]
rs72473905	1.00[EUR][1000 genomes]
rs72473913	1.00[EUR][1000 genomes]
rs746767	0.86[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7524572	1.00[MEX][hapmap]
rs774148	0.87[YRI][hapmap]
rs774149	1.00[ASW][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap]
rs953970	0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs9970393	1.00[JPT][hapmap]
rs9970394	0.93[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv523389	chr1:220926844-220956012	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922400-220932200	Weak transcription	HSMMtube	muscle
2	chr1:220922600-220928800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:220922600-220929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:220922600-220929400	Weak transcription	Esophagus	oesophagus
5	chr1:220922600-220931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:220922800-220929000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:220923200-220930400	Weak transcription	Spleen	Spleen
12	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:220923800-220928400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:220924000-220928400	Weak transcription	Aorta	Aorta
15	chr1:220924000-220928600	Weak transcription	A549	lung
16	chr1:220924200-220929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:220924200-220931000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:220924200-220936000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:220924400-220928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:220924400-220928400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:220924600-220936800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:220924600-220944000	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:220924800-220928400	Weak transcription	Brain Anterior Caudate	brain
24	chr1:220924800-220931200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:220924800-220945600	Weak transcription	Osteobl	bone
26	chr1:220925000-220928400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:220925000-220928400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:220925000-220929000	Weak transcription	Brain Germinal Matrix	brain
29	chr1:220925000-220946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
31	chr1:220925200-220928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:220925200-220928400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:220925200-220929200	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:220925200-220942000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:220925200-220943400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:220925400-220950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:220925800-220931800	Strong transcription	Fetal Intestine Small	intestine
38	chr1:220925800-220938400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:220926000-220929000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:220926400-220928400	Enhancers	Right Atrium	heart
41	chr1:220926400-220928600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:220927000-220933000	Weak transcription	Right Ventricle	heart
43	chr1:220927200-220928400	Genic enhancers	Fetal Heart	heart
44	chr1:220927200-220933200	Weak transcription	Small Intestine	intestine
45	chr1:220927400-220928400	Enhancers	Fetal Kidney	kidney
46	chr1:220927400-220929800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:220927400-220930400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr1:220927600-220929000	Genic enhancers	Liver	Liver
49	chr1:220927600-220930800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:220927600-220931200	Strong transcription	Duodenum Mucosa	Duodenum

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