Variant report

Variant	rs13394195
Chromosome Location	chr2:33539039-33539040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10169788	0.93[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10175557	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10175619	0.89[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11124313	0.96[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11673950	0.96[CEU][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11684829	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13391131	0.96[CEU][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13392154	0.88[CEU][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13394170	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13399607	0.80[EUR][1000 genomes]
rs13403065	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13414720	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17582516	0.96[CEU][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2603361	0.86[CEU][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3769540	0.93[CEU][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769542	0.85[YRI][hapmap];0.84[AMR][1000 genomes]
rs3769544	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3769545	0.85[CHB][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs4233909	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4670387	0.96[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4670408	0.96[CEU][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62148881	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62148882	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62148927	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62148931	0.90[ASN][1000 genomes]
rs6543704	0.96[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6543705	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6711027	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6739030	0.96[CEU][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6739506	0.96[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6739725	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs711234	0.94[YRI][hapmap];0.91[AMR][1000 genomes]
rs711235	0.88[AMR][1000 genomes]
rs723043	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749454	0.83[ASN][1000 genomes]
rs7565095	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7581438	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586227	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7590205	0.92[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7605474	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs817529	0.85[CEU][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs817532	0.88[CEU][hapmap];0.94[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs817534	0.88[CEU][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs817536	0.88[YRI][hapmap];0.88[AMR][1000 genomes]
rs817537	0.88[AMR][1000 genomes]
rs817539	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9308934	0.82[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs971793	0.89[CEU][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:33517200-33545000	Weak transcription	Fetal Kidney	kidney
3	chr2:33517200-33545800	Weak transcription	Fetal Lung	lung
4	chr2:33517200-33546400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:33517800-33543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:33523400-33545200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:33523600-33546200	Weak transcription	K562	blood
8	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:33524200-33546600	Weak transcription	Small Intestine	intestine
10	chr2:33527800-33540000	Weak transcription	Placenta	Placenta
11	chr2:33529000-33541400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:33529600-33546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:33529800-33540200	Weak transcription	Left Ventricle	heart
14	chr2:33529800-33546600	Weak transcription	Psoas Muscle	Psoas
15	chr2:33529800-33561000	Weak transcription	HUVEC	blood vessel
16	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
17	chr2:33530000-33539400	Weak transcription	Fetal Heart	heart
18	chr2:33530000-33543000	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:33531800-33540400	Weak transcription	Liver	Liver
20	chr2:33532200-33540000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:33533400-33539400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:33533400-33542800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:33535600-33544600	Weak transcription	NHLF	lung
24	chr2:33536800-33539800	Weak transcription	NH-A	brain
25	chr2:33537400-33545800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:33537600-33539800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:33537800-33540400	Enhancers	HMEC	breast
28	chr2:33538400-33539600	Genic enhancers	Aorta	Aorta
29	chr2:33538400-33539600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr2:33538400-33540400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:33538400-33541000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:33538400-33541800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:33538400-33543200	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr2:33538400-33545600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:33538400-33545800	Strong transcription	Osteobl	bone
36	chr2:33538600-33539400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:33538600-33540600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:33538600-33541600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:33538600-33541800	Weak transcription	NHDF-Ad	bronchial
40	chr2:33538800-33541600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:33538800-33542600	Weak transcription	Ovary	ovary
42	chr2:33539000-33541000	Strong transcription	Fetal Stomach	stomach
43	chr2:33539000-33542600	Weak transcription	Lung	lung
44	chr2:33539000-33544800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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