Variant report

Variant	rs41269301
Chromosome Location	chr6:75829329-75829330
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:75828969-75829331	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
COL12A1	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13437111	1.00[EUR][1000 genomes]
rs171262	1.00[EUR][1000 genomes]
rs240372	1.00[EUR][1000 genomes]
rs240373	1.00[EUR][1000 genomes]
rs41266763	1.00[EUR][1000 genomes]
rs4449593	1.00[EUR][1000 genomes]
rs510507	1.00[EUR][1000 genomes]
rs560250	1.00[EUR][1000 genomes]
rs581649	1.00[EUR][1000 genomes]
rs60256732	1.00[EUR][1000 genomes]
rs61177673	1.00[EUR][1000 genomes]
rs6931519	1.00[EUR][1000 genomes]
rs73462090	1.00[EUR][1000 genomes]
rs73747440	1.00[EUR][1000 genomes]
rs73747841	1.00[EUR][1000 genomes]
rs73747843	1.00[EUR][1000 genomes]
rs7738809	1.00[EUR][1000 genomes]
rs9293988	1.00[EUR][1000 genomes]
rs9443122	1.00[EUR][1000 genomes]
rs9443125	1.00[EUR][1000 genomes]
rs9447369	1.00[EUR][1000 genomes]
rs9447372	1.00[EUR][1000 genomes]
rs9447373	1.00[EUR][1000 genomes]
rs9447383	1.00[EUR][1000 genomes]
rs9447384	1.00[EUR][1000 genomes]
rs9447387	1.00[EUR][1000 genomes]
rs9447392	1.00[EUR][1000 genomes]
rs9447393	1.00[EUR][1000 genomes]
rs9447435	1.00[EUR][1000 genomes]
rs9447440	1.00[EUR][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	nsv1022377	chr6:75762463-75919592	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv538309	chr6:75762463-75919592	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830697	chr6:75763095-75915029	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75809600-75862000	Weak transcription	Fetal Kidney	kidney
2	chr6:75810000-75844400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:75812600-75835800	Weak transcription	HUVEC	blood vessel
4	chr6:75813000-75866200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:75813200-75840400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:75817600-75862200	Strong transcription	HMEC	breast
7	chr6:75818400-75831800	Weak transcription	Fetal Intestine Large	intestine
8	chr6:75822800-75831000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:75823000-75839600	Strong transcription	HSMM	muscle
10	chr6:75823400-75844600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:75823400-75862600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:75823600-75829600	Genic enhancers	Osteobl	bone
13	chr6:75824600-75868200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:75824600-75879600	Weak transcription	Fetal Intestine Small	intestine
15	chr6:75824800-75839200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:75825000-75830000	Strong transcription	HSMMtube	muscle
17	chr6:75825200-75831200	Strong transcription	Adipose Nuclei	Adipose
18	chr6:75825200-75837400	Strong transcription	NHEK	skin
19	chr6:75825400-75829800	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr6:75825400-75842800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:75825600-75832800	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:75825800-75832000	Weak transcription	Aorta	Aorta
23	chr6:75825800-75834800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:75826000-75836400	Strong transcription	Ovary	ovary
25	chr6:75826200-75829800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:75826800-75833800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr6:75826800-75841800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr6:75827400-75829600	Strong transcription	Fetal Muscle Leg	muscle
29	chr6:75827400-75866000	Weak transcription	Left Ventricle	heart
30	chr6:75827800-75836000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:75828200-75829600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:75828200-75829800	Enhancers	Hela-S3	cervix
33	chr6:75828400-75829600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:75828400-75829800	Strong transcription	NH-A	brain
35	chr6:75828600-75829600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:75828600-75834800	Strong transcription	NHDF-Ad	bronchial
37	chr6:75828800-75829600	Strong transcription	Rectal Smooth Muscle	rectum
38	chr6:75829000-75830800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:75829000-75837000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:75829200-75831200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:75829200-75831200	Weak transcription	Fetal Stomach	stomach
42	chr6:75829200-75836800	Strong transcription	NHLF	lung
43	chr6:75829200-75847200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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