Variant report

Variant	rs6974593
Chromosome Location	chr7:33385852-33385853
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:52)

rs_ID	r²[population]
rs10230991	1.00[YRI][hapmap]
rs10235943	1.00[YRI][hapmap]
rs10236358	1.00[YRI][hapmap]
rs10239609	1.00[YRI][hapmap]
rs10243590	1.00[YRI][hapmap]
rs10245418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10250312	1.00[YRI][hapmap]
rs10252552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10252927	1.00[YRI][hapmap]
rs10252935	1.00[YRI][hapmap]
rs10253352	1.00[YRI][hapmap]
rs10253574	1.00[YRI][hapmap]
rs10257379	1.00[YRI][hapmap]
rs10259513	1.00[YRI][hapmap]
rs10259674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10266641	1.00[YRI][hapmap]
rs10267370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275832	1.00[YRI][hapmap]
rs10276929	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10951385	1.00[YRI][hapmap]
rs12333380	1.00[YRI][hapmap]
rs12334131	1.00[YRI][hapmap]
rs12666595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12666825	0.96[ASN][1000 genomes]
rs12666901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12666955	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12666965	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12667607	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12668060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12669011	0.82[AMR][1000 genomes]
rs12669172	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12669656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12669847	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12669848	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12670789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12671882	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12672071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12672496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12673004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17170181	0.83[JPT][hapmap];0.91[AMR][1000 genomes]
rs17170182	0.91[AMR][1000 genomes]
rs17170255	1.00[JPT][hapmap]
rs3779240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4298411	1.00[YRI][hapmap]
rs57415509	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58749439	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58949565	0.82[AMR][1000 genomes]
rs60809075	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60878395	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6462471	1.00[JPT][hapmap]
rs6969260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9785054	1.00[YRI][hapmap]

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	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33355200-33419600	Weak transcription	Primary T cells from cord blood	blood
2	chr7:33362200-33404400	Weak transcription	Ovary	ovary
3	chr7:33362200-33404800	Weak transcription	Fetal Lung	lung
4	chr7:33370600-33396200	Weak transcription	Adipose Nuclei	Adipose
5	chr7:33375800-33399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:33377600-33404800	Weak transcription	Left Ventricle	heart
7	chr7:33377800-33392600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:33378000-33392800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:33378200-33404400	Weak transcription	Aorta	Aorta
10	chr7:33379400-33389400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:33379600-33391800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:33379800-33388800	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:33380000-33404400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:33380200-33393800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:33380400-33393200	Weak transcription	Primary B cells from cord blood	blood
16	chr7:33380400-33393400	Weak transcription	Fetal Stomach	stomach
17	chr7:33380600-33404800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:33381400-33407200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:33384000-33425400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:33384200-33388200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:33384200-33395800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:33384800-33391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:33385200-33386000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:33385400-33386000	Enhancers	Fetal Kidney	kidney
25	chr7:33385800-33407000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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