Variant report

Variant	rs12215671
Chromosome Location	chr6:74435607-74435608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12211905	0.86[ASN][1000 genomes]
rs2173854	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28360541	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4464751	0.86[EUR][1000 genomes]
rs56093139	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6924739	0.84[CEU][hapmap];0.86[MEX][hapmap]
rs7747167	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[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	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
2	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
6	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh 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
7	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74408000-74446800	Weak transcription	Dnd41	blood
2	chr6:74414800-74474600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:74423600-74441000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:74424200-74443200	Weak transcription	Right Atrium	heart
5	chr6:74425000-74443600	Weak transcription	Lung	lung
6	chr6:74425200-74439800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
8	chr6:74425400-74483200	Weak transcription	A549	lung
9	chr6:74430600-74455400	Weak transcription	Right Ventricle	heart
10	chr6:74432200-74438600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:74432400-74440800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:74432400-74442600	Weak transcription	Left Ventricle	heart
13	chr6:74432400-74444200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:74432600-74440400	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:74432800-74436200	Weak transcription	HMEC	breast
16	chr6:74432800-74440200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:74432800-74442600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:74433000-74439600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:74433000-74442200	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:74433000-74448000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:74433000-74456400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:74433000-74456400	Weak transcription	HSMM	muscle
23	chr6:74433200-74440000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:74433200-74440000	Weak transcription	Osteobl	bone
25	chr6:74433400-74438200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:74433400-74448600	Weak transcription	NH-A	brain
27	chr6:74433400-74456400	Weak transcription	NHLF	lung
28	chr6:74433600-74455000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:74434000-74435800	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:74434200-74435800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:74434200-74437000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:74434400-74435800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:74434600-74435800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:74434600-74448400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:74434800-74436600	Weak transcription	NHEK	skin
36	chr6:74434800-74439600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:74434800-74440200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:74435000-74436000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:74435000-74439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:74435000-74439800	Weak transcription	Fetal Heart	heart
41	chr6:74435200-74443800	Weak transcription	Thymus	Thymus
42	chr6:74435400-74435800	Enhancers	Primary T cells from cord blood	blood
43	chr6:74435400-74435800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:74435400-74439600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:74435400-74448200	Weak transcription	Adipose Nuclei	Adipose
46	chr6:74435600-74436000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:74435600-74440200	Weak transcription	HUVEC	blood vessel
48	chr6:74435600-74442600	Strong transcription	NHDF-Ad	bronchial
49	chr6:74435600-74443000	Weak transcription	Fetal Thymus	thymus
50	chr6:74435600-74445200	Weak transcription	Monocytes-CD14+_RO01746	blood

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