Variant report

Variant	rs6543691
Chromosome Location	chr2:33393902-33393903
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33383408..33387314-chr2:33391651..33394582,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10205739	0.89[CEU][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes]
rs10211514	0.86[AMR][1000 genomes]
rs10432657	0.81[YRI][hapmap]
rs10495783	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11124309	0.85[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11676681	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11681694	0.89[CEU][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes]
rs12611532	0.82[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes]
rs1377946	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs1377947	0.96[CEU][hapmap];0.97[YRI][hapmap];0.92[EUR][1000 genomes]
rs17640469	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17641115	0.96[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1869542	0.96[CEU][hapmap];0.93[YRI][hapmap];0.90[EUR][1000 genomes]
rs1902049	0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2061026	0.83[CEU][hapmap];0.90[YRI][hapmap]
rs2290449	0.92[CEU][hapmap];0.88[YRI][hapmap];0.82[EUR][1000 genomes]
rs2367619	0.86[AMR][1000 genomes]
rs2367620	0.86[AMR][1000 genomes]
rs2367624	0.96[CEU][hapmap];0.97[YRI][hapmap];0.91[EUR][1000 genomes]
rs34577456	0.83[ASN][1000 genomes]
rs4542826	0.96[CEU][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4670184	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4670186	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4670225	0.96[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4670252	0.86[AMR][1000 genomes]
rs4670307	0.89[CEU][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes]
rs4670822	0.86[AMR][1000 genomes]
rs4670833	0.86[AMR][1000 genomes]
rs4670857	0.82[CHB][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes]
rs4670860	0.83[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes]
rs4670863	0.86[AMR][1000 genomes]
rs4671016	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs5006120	0.86[AMR][1000 genomes]
rs5006121	0.81[AMR][1000 genomes]
rs5006122	0.82[AMR][1000 genomes]
rs5006123	0.81[AMR][1000 genomes]
rs5006124	0.85[AMR][1000 genomes]
rs5006125	0.86[AMR][1000 genomes]
rs55911139	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55957962	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58920936	0.83[EUR][1000 genomes]
rs62146679	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62146704	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6543689	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6543690	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6543698	0.83[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes]
rs6543700	0.80[CEU][hapmap]
rs6707911	0.96[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6707962	0.82[CEU][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes]
rs6708836	0.96[CEU][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6712473	0.82[CEU][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes]
rs6715793	0.82[CHB][hapmap]
rs6720059	0.86[AMR][1000 genomes]
rs6720185	0.82[CEU][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes]
rs6728094	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6736908	0.85[AMR][1000 genomes]
rs6739323	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6743685	0.82[CHB][hapmap]
rs6748806	0.86[AMR][1000 genomes]
rs6751657	0.82[CEU][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes]
rs6759943	0.86[AMR][1000 genomes]
rs7423390	0.90[CEU][hapmap];0.97[YRI][hapmap];0.89[EUR][1000 genomes]
rs7571401	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9308931	0.96[CEU][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs961239	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs964702	0.96[CEU][hapmap];0.97[YRI][hapmap];0.92[EUR][1000 genomes]
rs964703	0.90[YRI][hapmap]
rs996102	0.89[CEU][hapmap];0.96[YRI][hapmap];0.87[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	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	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
2	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:33388800-33394000	Weak transcription	Fetal Lung	lung
5	chr2:33389800-33394400	Enhancers	NHDF-Ad	bronchial
6	chr2:33390000-33394400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:33390000-33394400	Enhancers	NHLF	lung
8	chr2:33390200-33394800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:33390400-33394400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:33391800-33394400	Enhancers	Ovary	ovary
11	chr2:33391800-33394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:33392000-33394400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:33392200-33394400	Enhancers	Osteobl	bone
14	chr2:33392200-33411800	Weak transcription	Left Ventricle	heart
15	chr2:33392400-33394400	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:33392600-33394200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:33392600-33394400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:33392600-33405600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:33392800-33413600	Weak transcription	HUVEC	blood vessel
20	chr2:33393000-33394000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:33393000-33405000	Weak transcription	Aorta	Aorta
22	chr2:33393200-33408400	Weak transcription	NH-A	brain
23	chr2:33393400-33394000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:33393400-33405000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:33393600-33394000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:33393600-33394000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:33393600-33394000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:33393600-33394200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:33393600-33394200	Enhancers	Colon Smooth Muscle	Colon
30	chr2:33393800-33394000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:33393800-33394000	Enhancers	Fetal Heart	heart
32	chr2:33393800-33394000	Enhancers	Fetal Stomach	stomach
33	chr2:33393800-33394800	Enhancers	Fetal Kidney	kidney
34	chr2:33393800-33395000	Enhancers	Rectal Smooth Muscle	rectum

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