Variant report

Variant	rs6751340
Chromosome Location	chr2:54187617-54187618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54178658..54180382-chr2:54186719..54189310,2	K562	blood:
2	chr2:54185625..54188123-chr2:54194333..54197670,3	MCF-7	breast:
3	chr2:54184186..54188575-chr2:54196120..54198955,4	MCF-7	breast:
4	chr2:54182457..54184088-chr2:54186871..54190215,3	K562	blood:
5	chr2:54182588..54184122-chr2:54186046..54188371,2	K562	blood:
6	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:
7	chr2:54186673..54188652-chr2:54193510..54195241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10180492	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10181332	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10188834	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190353	0.83[AMR][1000 genomes]
rs10199041	1.00[CHB][hapmap]
rs10199444	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199995	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207892	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10208649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1049894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11125517	1.00[ASN][1000 genomes]
rs11125521	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11884327	1.00[CHB][hapmap]
rs11884857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs11886024	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886366	0.85[EUR][1000 genomes]
rs11887593	0.83[AMR][1000 genomes]
rs11889527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11890472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891000	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891079	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11892759	1.00[ASN][1000 genomes]
rs11894028	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896279	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11904365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13387291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13389673	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390377	1.00[CHB][hapmap]
rs13395751	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13401491	0.83[AMR][1000 genomes]
rs13401719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402778	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414565	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13417051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425337	1.00[CHB][hapmap]
rs13432387	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404994	1.00[ASN][1000 genomes]
rs17045242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17045513	1.00[CHB][hapmap]
rs2112120	0.83[AMR][1000 genomes]
rs2161083	0.83[AMR][1000 genomes]
rs2177791	1.00[ASN][1000 genomes]
rs2177792	1.00[ASN][1000 genomes]
rs2287347	0.80[CEU][hapmap]
rs28391754	1.00[ASN][1000 genomes]
rs28571698	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28699646	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3930909	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41536750	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553857	1.00[CHB][hapmap]
rs58920915	0.83[AMR][1000 genomes]
rs60769690	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60776154	0.83[AMR][1000 genomes]
rs6545367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6545368	0.80[CEU][hapmap]
rs6545369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs6545372	1.00[ASN][1000 genomes]
rs6712561	1.00[ASN][1000 genomes]
rs6715161	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6716978	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6719990	0.83[AMR][1000 genomes]
rs6723722	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730494	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6731217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731911	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740063	1.00[ASN][1000 genomes]
rs6745729	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748686	0.83[AMR][1000 genomes]
rs6756424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759437	1.00[ASN][1000 genomes]
rs6761648	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902931	1.00[ASN][1000 genomes]
rs72904915	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72906711	0.83[AMR][1000 genomes]
rs72906714	0.83[AMR][1000 genomes]
rs73937421	1.00[ASN][1000 genomes]
rs7559651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560575	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565152	1.00[ASN][1000 genomes]
rs7567225	1.00[ASN][1000 genomes]
rs7567556	1.00[CHB][hapmap]
rs7567614	1.00[CHB][hapmap]
rs7588319	0.83[AMR][1000 genomes]
rs7594327	1.00[ASN][1000 genomes]
rs7599335	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608085	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608989	1.00[ASN][1000 genomes]
rs9309251	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9678301	0.84[EUR][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	esv2762257	chr2:54187617-54192015	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
3	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
5	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
6	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
7	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
8	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
9	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:54161600-54189800	Weak transcription	Ovary	ovary
12	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:54173400-54191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
15	chr2:54174400-54188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:54174400-54188600	Weak transcription	GM12878-XiMat	blood
17	chr2:54175200-54193000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
19	chr2:54175400-54188400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:54175800-54189800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:54175800-54190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:54176000-54187800	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:54176000-54189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:54176200-54188400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:54176200-54188400	Weak transcription	HMEC	breast
26	chr2:54176200-54188600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:54176200-54189800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:54176200-54189800	Weak transcription	NH-A	brain
29	chr2:54176200-54191600	Weak transcription	NHDF-Ad	bronchial
30	chr2:54176200-54192000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:54176200-54194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:54176200-54194600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:54176200-54195400	Weak transcription	Fetal Intestine Large	intestine
34	chr2:54176200-54195400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:54176200-54196000	Weak transcription	Fetal Thymus	thymus
36	chr2:54176200-54196200	Weak transcription	Placenta	Placenta
37	chr2:54176400-54187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:54176400-54188200	Weak transcription	Primary T cells from cord blood	blood
39	chr2:54176400-54188400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:54176400-54189000	Weak transcription	Fetal Kidney	kidney
41	chr2:54176400-54194800	Weak transcription	NHLF	lung
42	chr2:54176400-54195000	Weak transcription	HSMM	muscle
43	chr2:54176600-54188600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:54176600-54189200	Weak transcription	Adipose Nuclei	Adipose
45	chr2:54176800-54188400	Weak transcription	NHEK	skin
46	chr2:54176800-54192200	Weak transcription	Hela-S3	cervix
47	chr2:54177000-54188000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:54177000-54189800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:54177000-54189800	Weak transcription	Dnd41	blood
50	chr2:54177000-54194800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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