Variant report

Variant	rs6546035
Chromosome Location	chr2:64092331-64092332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64089750..64092603-chr2:64092679..64094462,2	MCF-7	breast:
2	chr2:64090294..64093479-chr2:64095197..64098946,3	K562	blood:
3	chr2:64077717..64079562-chr2:64090764..64092837,2	K562	blood:
4	chr2:64067481..64069401-chr2:64090841..64094477,4	K562	blood:
5	chr2:64072168..64074288-chr2:64092177..64094674,2	K562	blood:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10183479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11558741	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674020	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676710	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11683408	0.92[ASN][1000 genomes]
rs11686956	0.82[ASN][1000 genomes]
rs11691987	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11693906	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11694253	0.83[ASN][1000 genomes]
rs11695421	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12713498	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12996866	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13018690	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13431781	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440002	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17562177	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17562423	0.90[ASN][1000 genomes]
rs17619753	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193031	0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2302808	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2439183	0.88[ASN][1000 genomes]
rs2969395	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs329478	0.88[ASN][1000 genomes]
rs329488	0.80[ASN][1000 genomes]
rs34122334	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34765999	0.88[ASN][1000 genomes]
rs34777730	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs35002211	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35336851	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35474183	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35480874	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35697586	0.88[ASN][1000 genomes]
rs35960986	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36033991	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36123537	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4233930	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4538187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671071	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56904032	0.92[ASN][1000 genomes]
rs6546029	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546032	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546033	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66980330	1.00[ASN][1000 genomes]
rs6710763	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs6715992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67308158	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731508	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67615384	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67765474	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68117986	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72808243	0.96[ASN][1000 genomes]
rs72893103	0.92[ASN][1000 genomes]
rs7590399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64070200-64103000	Weak transcription	Gastric	stomach
2	chr2:64077000-64100200	Weak transcription	Ovary	ovary
3	chr2:64078000-64108000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:64081800-64100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:64082200-64092400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:64082200-64100200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:64082200-64110000	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:64083000-64123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:64083000-64129200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:64083200-64097800	Weak transcription	Right Atrium	heart
11	chr2:64083200-64110200	Weak transcription	Small Intestine	intestine
12	chr2:64083200-64110600	Weak transcription	Pancreas	Pancrea
13	chr2:64083600-64095400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:64084000-64095600	Genic enhancers	Dnd41	blood
15	chr2:64084200-64094000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:64084600-64100000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:64084800-64092800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:64085000-64092600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:64085400-64092400	Strong transcription	Fetal Thymus	thymus
20	chr2:64085400-64093000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:64085400-64095000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:64085400-64095400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:64085400-64096600	Weak transcription	Brain Angular Gyrus	brain
24	chr2:64085400-64096600	Weak transcription	Brain Substantia Nigra	brain
25	chr2:64085400-64098000	Weak transcription	Lung	lung
26	chr2:64085400-64098000	Weak transcription	Psoas Muscle	Psoas
27	chr2:64085400-64098400	Weak transcription	Aorta	Aorta
28	chr2:64085400-64100000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:64085400-64100600	Weak transcription	Spleen	Spleen
30	chr2:64085600-64092600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:64085600-64102400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:64086400-64092400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:64086400-64092400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:64086400-64092600	Strong transcription	HSMM	muscle
35	chr2:64086600-64096600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:64086600-64110000	Weak transcription	Esophagus	oesophagus
37	chr2:64086800-64092800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:64086800-64096600	Weak transcription	Brain Anterior Caudate	brain
39	chr2:64086800-64100400	Weak transcription	Fetal Brain Female	brain
40	chr2:64086800-64100800	Weak transcription	Fetal Kidney	kidney
41	chr2:64086800-64102800	Weak transcription	Right Ventricle	heart
42	chr2:64087200-64099800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:64087400-64093200	Strong transcription	Primary B cells from cord blood	blood
44	chr2:64087600-64101800	Genic enhancers	Liver	Liver
45	chr2:64088000-64094000	Genic enhancers	NHEK	skin
46	chr2:64088000-64100000	Weak transcription	K562	blood
47	chr2:64088000-64107800	Weak transcription	Colonic Mucosa	Colon
48	chr2:64088400-64094800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:64088600-64093600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:64088800-64092400	Strong transcription	Primary T cells fromperipheralblood	blood

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