Variant report

Variant	rs240740
Chromosome Location	chr6:75866524-75866525
allele	A/T
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	GATA2	chr6:75865958-75866740	HUVEC	blood vessel:	n/a	chr6:75866529-75866538 chr6:75866531-75866538 chr6:75866524-75866545 chr6:75866245-75866256

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:75861151..75863994-chr6:75864018..75866646,3	K562	blood:

Variant related genes	Relation type
COL12A1	TF binding region
ENSG00000111799	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs16886322	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16886323	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16886390	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs16886391	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs171266	0.80[AFR][1000 genomes]
rs173279	0.91[AFR][1000 genomes]
rs181179	0.89[AFR][1000 genomes]
rs1831689	0.83[ASN][1000 genomes]
rs2274901	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2300791	0.92[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2300792	0.84[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2300793	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs240361	0.84[YRI][hapmap]
rs240362	0.91[YRI][hapmap]
rs240364	0.91[YRI][hapmap]
rs240367	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs240391	0.80[YRI][hapmap]
rs240434	0.80[AFR][1000 genomes]
rs240436	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs240716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs240718	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs240739	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]
rs240742	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs34024604	0.95[ASN][1000 genomes]
rs3756789	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756790	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3777503	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs428406	0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs471960	0.89[AFR][1000 genomes]
rs545588	1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs56705798	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57762746	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs578715	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs58104879	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58259480	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs588100	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs59338586	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59681030	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs598034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs601008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60309896	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60808683	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60891734	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs612266	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61293108	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs658592	0.99[ASN][1000 genomes]
rs683406	0.85[YRI][hapmap]
rs6906960	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73463837	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463838	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463840	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463847	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463851	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463852	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463855	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463859	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463862	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463865	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463868	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463869	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463875	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463878	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463879	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463881	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463884	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463885	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463887	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463888	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463889	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73463890	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463895	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463897	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463898	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463899	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463900	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73463901	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73465805	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467620	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467622	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467625	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467626	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467628	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467636	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467639	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467641	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467644	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467651	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467652	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467656	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73467659	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73749975	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv886181	chr6:75852488-75919484	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75824600-75868200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:75824600-75879600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:75853200-75867200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:75861400-75867600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:75862000-75870200	Weak transcription	Hela-S3	cervix
6	chr6:75862200-75880600	Weak transcription	Fetal Stomach	stomach
7	chr6:75862400-75867400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:75862400-75880400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:75862400-75881000	Weak transcription	Aorta	Aorta
10	chr6:75862400-75884200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:75862400-75885000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:75862400-75885600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:75862400-75888600	Weak transcription	Fetal Intestine Large	intestine
14	chr6:75862400-75889800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:75863400-75868800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:75864000-75866800	Strong transcription	HMEC	breast
17	chr6:75864600-75867400	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:75864600-75868200	Genic enhancers	Osteobl	bone
19	chr6:75864800-75867800	Enhancers	HUVEC	blood vessel
20	chr6:75865000-75870000	Weak transcription	Ovary	ovary
21	chr6:75865000-75870600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:75865000-75884400	Weak transcription	NH-A	brain
23	chr6:75865400-75871000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:75865600-75867200	Weak transcription	HSMM	muscle
25	chr6:75865600-75874600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:75865800-75876600	Weak transcription	Adipose Nuclei	Adipose
27	chr6:75866000-75867200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:75866200-75867200	Weak transcription	NHLF	lung
29	chr6:75866200-75868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:75866200-75873000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:75866200-75873200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:75866200-75875000	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:75866200-75877000	Weak transcription	HSMMtube	muscle
34	chr6:75866200-75878000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:75866200-75884800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:75866400-75866800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr6:75866400-75870000	Weak transcription	NHDF-Ad	bronchial
38	chr6:75866400-75872800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:75866400-75884600	Weak transcription	NHEK	skin

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