Variant report

Variant	rs6753785
Chromosome Location	chr2:111923630-111923631
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111919342..111921003-chr2:111921900..111924455,2	MCF-7	breast:
2	chr2:111920278..111923982-chr2:111925821..111929846,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13396983	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17558117	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1877331	0.93[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1980045	0.88[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2015454	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2241843	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2241845	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36018702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827536	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848393	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4849417	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4849442	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs616084	0.91[ASN][1000 genomes]
rs616130	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs616582	0.93[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6542334	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6738028	0.86[CEU][hapmap];0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs6746608	0.92[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6750599	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6758181	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs676119	0.91[ASN][1000 genomes]
rs7567444	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes]
rs9308731	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111884800-111925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:111906600-111927000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:111910000-111925200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:111915200-111925600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:111915600-111925400	Strong transcription	Dnd41	blood
6	chr2:111916000-111925800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:111917000-111925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:111917200-111925000	Weak transcription	Hela-S3	cervix
9	chr2:111919200-111925000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:111919200-111925400	Weak transcription	HMEC	breast
11	chr2:111919400-111925600	Weak transcription	Osteobl	bone
12	chr2:111919600-111923800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:111919600-111926800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:111919800-111925200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:111920400-111926000	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:111920400-111926200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:111920400-111926400	Weak transcription	Brain Anterior Caudate	brain
18	chr2:111920600-111924400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:111920600-111928000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:111920800-111925000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:111920800-111925000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:111920800-111925200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:111920800-111926200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:111920800-111926400	Weak transcription	Fetal Brain Female	brain
25	chr2:111920800-111943000	Weak transcription	Right Ventricle	heart
26	chr2:111921000-111925200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:111921000-111925200	Strong transcription	Fetal Thymus	thymus
28	chr2:111921000-111925200	Weak transcription	NH-A	brain
29	chr2:111921000-111925600	Strong transcription	HepG2	liver
30	chr2:111921200-111923800	Weak transcription	Fetal Kidney	kidney
31	chr2:111921200-111923800	Weak transcription	Gastric	stomach
32	chr2:111921200-111924200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:111921200-111924800	Weak transcription	Stomach Mucosa	stomach
34	chr2:111921200-111925000	Weak transcription	GM12878-XiMat	blood
35	chr2:111921200-111925200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:111921200-111925200	Strong transcription	Thymus	Thymus
37	chr2:111921200-111925200	Strong transcription	A549	lung
38	chr2:111921200-111925400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:111921200-111925400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:111921200-111939400	Weak transcription	Right Atrium	heart
41	chr2:111921400-111923800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:111921400-111924200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:111921400-111924200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:111921400-111924800	Strong transcription	Fetal Intestine Small	intestine
45	chr2:111921400-111925000	Strong transcription	Liver	Liver
46	chr2:111921400-111925200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:111921400-111925600	Weak transcription	Small Intestine	intestine
48	chr2:111921400-111926200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:111921400-111928800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:111921400-111932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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