Variant report

Variant	rs6673271
Chromosome Location	chr1:193187235-193187236
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	chr1:193186479..193188136-chr1:193189038..193191435,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10494674	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10732293	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10733078	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs10737620	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10737621	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10737622	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10754047	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754049	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10754052	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10801173	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs10801177	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs10801178	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801179	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10801183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10801184	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs10801187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801189	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs10921308	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap]
rs10921312	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs10921318	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10921323	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10921325	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs10921326	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap]
rs10921330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs11577299	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs12047390	0.86[CEU][hapmap];0.82[CHB][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs12086884	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12090626	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs12126529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs12141392	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs12145057	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12410213	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1325197	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs1361404	0.82[CHB][hapmap]
rs1361405	0.86[CEU][hapmap];0.82[CHB][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap]
rs1408830	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs1536098	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1536099	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1539724	0.90[JPT][hapmap]
rs1890660	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs2181408	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.91[YRI][hapmap]
rs2182106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2186016	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs2275444	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs2370029	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs2370079	0.90[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap]
rs3738244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs3806351	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs3818865	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs3820417	0.81[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap]
rs3945872	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4379660	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4450000	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4466634	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4657744	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4657842	0.86[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs4657843	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap]
rs4657847	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs4657848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs569656	0.95[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs6428152	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs6428154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6428156	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs6428157	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs6428159	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs6661522	0.81[CHB][hapmap]
rs6665069	0.82[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap]
rs6665666	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6671237	0.82[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap]
rs6675833	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6676322	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6676416	0.85[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.87[YRI][hapmap]
rs6676878	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6680224	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6692342	0.81[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap]
rs6693734	0.90[CEU][hapmap]
rs6697079	0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap]
rs693519	0.86[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs7514072	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs7515024	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs7518792	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs7519242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs7542466	0.81[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs7547615	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs817140	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs843844	0.94[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap]
rs912070	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.91[YRI][hapmap]
rs912071	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.91[YRI][hapmap]
rs9427838	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap]
rs9783104	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:193167800-193210400	Weak transcription	Ovary	ovary
5	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
6	chr1:193169000-193190800	Weak transcription	Brain Anterior Caudate	brain
7	chr1:193170200-193191200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:193176800-193203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:193176800-193209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:193177000-193206600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:193178800-193189000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:193179400-193187400	Weak transcription	Brain Angular Gyrus	brain
14	chr1:193179400-193189200	Strong transcription	Primary T cells from cord blood	blood
15	chr1:193179400-193190800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:193180200-193189200	Strong transcription	Primary B cells from cord blood	blood
17	chr1:193180400-193189200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:193180600-193188600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:193180600-193200400	Weak transcription	Fetal Heart	heart
20	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
22	chr1:193181000-193207400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:193181400-193189000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:193181400-193190800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:193181400-193198200	Weak transcription	Hela-S3	cervix
26	chr1:193181600-193188200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:193181600-193189000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:193181600-193189000	Strong transcription	Fetal Thymus	thymus
29	chr1:193181800-193189000	Strong transcription	HSMM	muscle
30	chr1:193181800-193210400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
32	chr1:193182000-193187600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:193182200-193189400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:193182400-193189000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr1:193182600-193188800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:193182600-193189000	Strong transcription	Dnd41	blood
37	chr1:193182800-193187800	Strong transcription	HSMMtube	muscle
38	chr1:193182800-193188400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:193182800-193188800	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:193182800-193189000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:193182800-193189200	Strong transcription	Liver	Liver
42	chr1:193183400-193211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:193183400-193216000	Weak transcription	NHEK	skin
44	chr1:193184200-193202200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:193184200-193209000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:193184400-193202000	Weak transcription	K562	blood
47	chr1:193184400-193227600	Weak transcription	HMEC	breast
48	chr1:193184800-193187800	Strong transcription	Thymus	Thymus
49	chr1:193184800-193188400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:193185000-193204200	Weak transcription	Fetal Kidney	kidney

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