Variant report

Variant	rs6745576
Chromosome Location	chr2:74304378-74304379
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74302146..74304941-chr2:74345913..74348314,2	K562	blood:
2	chr2:74303308..74305107-chr2:74335863..74338424,2	K562	blood:
3	chr2:74210506..74213042-chr2:74302850..74305189,2	K562	blood:
4	chr2:74299165..74300793-chr2:74302480..74304693,2	MCF-7	breast:
5	chr2:74303366..74305130-chr2:74308677..74311311,2	K562	blood:
6	chr2:74211335..74216336-chr2:74300187..74305558,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000255989	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10164943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168249	0.87[EUR][1000 genomes]
rs10168408	0.87[EUR][1000 genomes]
rs10168410	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10179742	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10179967	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186781	0.87[ASN][1000 genomes]
rs10191539	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10192993	0.87[ASN][1000 genomes]
rs10198884	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10200470	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11126424	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11884748	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11885172	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11886928	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11898903	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs12328927	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713803	0.83[EUR][1000 genomes]
rs12713804	0.86[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes]
rs12713805	0.86[EUR][1000 genomes]
rs12713806	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713808	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713809	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713810	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12988533	0.85[EUR][1000 genomes]
rs12995468	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs13005103	0.92[EUR][1000 genomes]
rs13006301	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13006407	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13011961	0.92[EUR][1000 genomes]
rs13013211	0.93[EUR][1000 genomes]
rs13014576	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13016198	0.95[CEU][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs13021880	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13027288	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13027623	0.86[EUR][1000 genomes]
rs13030414	0.85[EUR][1000 genomes]
rs13387010	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13387412	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13396777	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13413697	0.87[ASN][1000 genomes]
rs13426799	0.87[ASN][1000 genomes]
rs28450901	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34136450	0.95[EUR][1000 genomes]
rs34201525	0.93[EUR][1000 genomes]
rs35592918	0.87[EUR][1000 genomes]
rs35609589	0.86[EUR][1000 genomes]
rs3902790	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4073048	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4241260	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4328662	0.87[EUR][1000 genomes]
rs4331526	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4338985	0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4364046	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4371381	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4374402	0.86[EUR][1000 genomes]
rs4416242	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4574138	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4578887	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4621184	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4852326	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4853003	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4853005	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4853006	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4853007	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4853009	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60279245	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6546884	0.85[EUR][1000 genomes]
rs6546885	0.87[EUR][1000 genomes]
rs6546886	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs6546887	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6546889	0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6706327	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6713313	0.82[EUR][1000 genomes]
rs6714186	0.86[EUR][1000 genomes]
rs6717896	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs6741544	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6743073	0.86[EUR][1000 genomes]
rs6745236	0.95[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6745792	0.95[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6754218	0.91[EUR][1000 genomes]
rs6755711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6756474	0.95[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71337722	0.90[EUR][1000 genomes]
rs7560668	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7568898	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7584777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7585240	0.81[CEU][hapmap]
rs7587991	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7589915	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7592749	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7593050	1.00[CEU][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes]
rs7595401	0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7597388	0.92[EUR][1000 genomes]
rs7601526	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7606491	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9309478	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74264800-74311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
3	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
4	chr2:74275200-74307800	Weak transcription	Aorta	Aorta
5	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:74276200-74307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:74276800-74307400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:74277000-74307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:74277000-74308000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:74277200-74307600	Weak transcription	Spleen	Spleen
12	chr2:74277200-74307600	Weak transcription	Hela-S3	cervix
13	chr2:74277600-74306800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine
15	chr2:74281200-74306800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:74281600-74307600	Weak transcription	Pancreas	Pancrea
17	chr2:74281800-74310200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:74284200-74307800	Weak transcription	Esophagus	oesophagus
20	chr2:74287400-74306600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:74287400-74314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:74287600-74310600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:74291800-74307400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:74294000-74307600	Weak transcription	Ovary	ovary
25	chr2:74294400-74307200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:74294600-74307000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:74295000-74307400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:74295200-74306800	Weak transcription	Lung	lung
29	chr2:74295800-74305200	Strong transcription	Primary B cells from cord blood	blood
30	chr2:74296200-74306800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:74296600-74307800	Weak transcription	Colonic Mucosa	Colon
32	chr2:74298000-74305000	Strong transcription	Primary T cells from cord blood	blood
33	chr2:74298400-74306800	Weak transcription	Fetal Stomach	stomach
34	chr2:74298400-74320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:74299200-74307000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:74299200-74307600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:74299400-74304600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:74299400-74306800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:74299600-74304400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:74299800-74332000	Strong transcription	Dnd41	blood
41	chr2:74299800-74333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:74300000-74306800	Weak transcription	HSMM	muscle
43	chr2:74300000-74307000	Weak transcription	Osteobl	bone
44	chr2:74300000-74314200	Weak transcription	HMEC	breast
45	chr2:74300000-74333200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:74300200-74305000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:74300200-74305000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:74300400-74305200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:74300400-74305200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:74300400-74308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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