Variant report

Variant	rs329483
Chromosome Location	chr2:64291780-64291781
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	chr2:64291575..64294023-chr2:64351680..64354001,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1440004	0.84[ASN][1000 genomes]
rs2080649	0.89[ASN][1000 genomes]
rs2164735	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901636	0.87[ASN][1000 genomes]
rs329480	0.84[CHB][hapmap]
rs329486	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs3980405	0.89[ASN][1000 genomes]
rs6546038	0.84[JPT][hapmap]
rs6546039	0.84[CHB][hapmap]
rs6546042	0.83[ASN][1000 genomes]
rs6546043	0.90[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs6546046	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs6727120	0.89[ASN][1000 genomes]
rs6736556	0.83[ASN][1000 genomes]
rs7560265	0.83[ASN][1000 genomes]
rs7589241	0.84[CHB][hapmap]
rs7596262	0.89[CHB][hapmap]
rs7608885	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64289400-64293000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:64289600-64292000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:64289600-64292000	Enhancers	Osteobl	bone
4	chr2:64289600-64292200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:64289600-64293000	Enhancers	NHEK	skin
6	chr2:64290000-64292200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:64290000-64292800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:64290000-64292800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:64290000-64293000	Enhancers	Fetal Thymus	thymus
10	chr2:64290000-64293200	Enhancers	Placenta	Placenta
11	chr2:64290200-64291800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:64290200-64291800	Enhancers	HSMMtube	muscle
13	chr2:64290200-64292200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:64290200-64292200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:64290200-64292400	Enhancers	Thymus	Thymus
16	chr2:64290200-64292400	Enhancers	NHLF	lung
17	chr2:64290200-64292800	Enhancers	Primary T cells from cord blood	blood
18	chr2:64290200-64292800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:64290200-64292800	Enhancers	K562	blood
20	chr2:64290200-64293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:64290200-64293000	Enhancers	HMEC	breast
22	chr2:64290400-64291800	Enhancers	Stomach Mucosa	stomach
23	chr2:64290400-64291800	Enhancers	NHDF-Ad	bronchial
24	chr2:64290400-64292000	Enhancers	Fetal Lung	lung
25	chr2:64290600-64291800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:64290600-64291800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:64290600-64291800	Enhancers	Small Intestine	intestine
28	chr2:64290600-64292200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:64290600-64292200	Enhancers	Brain Germinal Matrix	brain
30	chr2:64290600-64292800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:64290600-64293000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:64290600-64294800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:64290800-64291800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:64290800-64291800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:64290800-64292000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:64290800-64292000	Enhancers	Colon Smooth Muscle	Colon
37	chr2:64290800-64292000	Enhancers	Fetal Heart	heart
38	chr2:64290800-64292200	Enhancers	GM12878-XiMat	blood
39	chr2:64290800-64292400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:64290800-64292600	Enhancers	Brain Anterior Caudate	brain
41	chr2:64290800-64293800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:64291000-64291800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:64291000-64291800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:64291000-64291800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:64291000-64291800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:64291000-64291800	Enhancers	Left Ventricle	heart
47	chr2:64291000-64291800	Enhancers	Pancreas	Pancrea
48	chr2:64291000-64291800	Flanking Active TSS	HUVEC	blood vessel
49	chr2:64291000-64292000	Enhancers	Right Ventricle	heart
50	chr2:64291000-64292000	Enhancers	Sigmoid Colon	Sigmoid Colon

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