Variant report

Variant	rs6734534
Chromosome Location	chr2:153211213-153211214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10432492	0.82[CEU][hapmap]
rs11687067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151851	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12618892	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16831021	0.87[YRI][hapmap]
rs17398773	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4254462	1.00[YRI][hapmap]
rs4274556	0.81[CEU][hapmap]
rs4442949	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4444472	0.85[EUR][1000 genomes]
rs56220036	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715038	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6739954	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754723	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757784	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757877	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565316	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693435	chr2:153210444-153219178	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
2	chr2:153194600-153214600	Weak transcription	Gastric	stomach
3	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:153196600-153211800	Weak transcription	Small Intestine	intestine
5	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
7	chr2:153199400-153212200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:153199800-153211800	Weak transcription	Fetal Kidney	kidney
9	chr2:153200400-153211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:153200800-153212600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:153200800-153215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
15	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:153201600-153216000	Weak transcription	Fetal Lung	lung
17	chr2:153202400-153219800	Weak transcription	Hela-S3	cervix
18	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
20	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:153205200-153211400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:153205200-153216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:153205400-153223800	Weak transcription	HMEC	breast
24	chr2:153206600-153214400	Weak transcription	Left Ventricle	heart
25	chr2:153206800-153215600	Weak transcription	Pancreas	Pancrea
26	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:153207000-153214400	Weak transcription	Lung	lung
28	chr2:153207000-153223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
30	chr2:153208200-153212200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:153208400-153212000	Enhancers	Brain Hippocampus Middle	brain
32	chr2:153208400-153212600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:153208400-153212600	Enhancers	Brain Substantia Nigra	brain
34	chr2:153208400-153212800	Enhancers	Brain Angular Gyrus	brain
35	chr2:153208400-153212800	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:153208400-153212800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:153208600-153211600	Enhancers	Brain Anterior Caudate	brain
38	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:153209600-153211600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:153209600-153212400	Enhancers	A549	lung
41	chr2:153209800-153211600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:153209800-153225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:153210000-153212400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:153210200-153211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:153210200-153212400	Enhancers	Brain Germinal Matrix	brain
46	chr2:153210400-153212200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:153210400-153212400	Enhancers	Osteobl	bone
48	chr2:153210600-153212000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr2:153210600-153212000	Enhancers	NH-A	brain
50	chr2:153210600-153212200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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