Variant report

Variant	rs6714213
Chromosome Location	chr2:153357383-153357384
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153356042..153358232-chr2:153361273..153362931,2	K562	blood:
2	chr2:153353996..153356046-chr2:153357031..153359533,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10169514	0.90[ASN][1000 genomes]
rs10191361	0.90[ASN][1000 genomes]
rs11902693	0.90[ASN][1000 genomes]
rs12471183	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1579050	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17399080	1.00[CHD][hapmap]
rs1878632	1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs2346206	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811574	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55882252	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180804	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742066	0.90[ASN][1000 genomes]
rs6744391	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153343000-153360600	Enhancers	Brain Anterior Caudate	brain
2	chr2:153348800-153370200	Weak transcription	Aorta	Aorta
3	chr2:153350400-153357400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:153350800-153360400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:153351400-153357600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:153351400-153361000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:153351600-153359600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:153352000-153359800	Enhancers	Brain Substantia Nigra	brain
9	chr2:153354200-153358200	Enhancers	Adipose Nuclei	Adipose
10	chr2:153354200-153358800	Enhancers	Brain Angular Gyrus	brain
11	chr2:153354200-153360000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:153354400-153361000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:153354600-153360600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:153354600-153361000	Weak transcription	NHLF	lung
15	chr2:153354600-153364600	Weak transcription	Left Ventricle	heart
16	chr2:153354600-153365200	Weak transcription	Pancreas	Pancrea
17	chr2:153354800-153362000	Weak transcription	Fetal Heart	heart
18	chr2:153355200-153358800	Enhancers	A549	lung
19	chr2:153355400-153357400	Enhancers	Psoas Muscle	Psoas
20	chr2:153355400-153358600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:153355600-153362400	Enhancers	Fetal Brain Male	brain
22	chr2:153355800-153357600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:153356000-153357400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:153356000-153357800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:153356000-153364600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:153356200-153357800	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:153356200-153358600	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:153356200-153359600	Weak transcription	NHEK	skin
29	chr2:153356400-153357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:153356400-153359400	Weak transcription	HepG2	liver
31	chr2:153356400-153361200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:153356400-153363000	Weak transcription	Small Intestine	intestine
33	chr2:153356600-153357600	Enhancers	Fetal Muscle Leg	muscle
34	chr2:153356600-153357800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:153356600-153358600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:153356600-153359400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:153356600-153359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:153356600-153361000	Weak transcription	NH-A	brain
39	chr2:153356600-153361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:153356600-153361400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:153356600-153362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:153356800-153357400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:153356800-153357400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:153356800-153357400	Enhancers	Right Atrium	heart
45	chr2:153356800-153357800	Weak transcription	Fetal Brain Female	brain
46	chr2:153356800-153358200	Enhancers	Ovary	ovary
47	chr2:153356800-153361000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:153356800-153361000	Weak transcription	HSMMtube	muscle
49	chr2:153356800-153361000	Weak transcription	Osteobl	bone
50	chr2:153356800-153364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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