Variant report

Variant	rs2300796
Chromosome Location	chr6:75808668-75808669
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:75678029..75679624-chr6:75806016..75808705,2	MCF-7	breast:
2	chr6:75807079..75808878-chr6:75911189..75913218,2	MCF-7	breast:
3	chr6:75678929..75679518-chr6:75808285..75808885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111799	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10943236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662022	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12662415	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12663939	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2015242	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273264	1.00[CEU][hapmap]
rs2295252	1.00[CEU][hapmap]
rs2295253	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734191	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3765496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818138	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56091378	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59332512	1.00[AFR][1000 genomes]
rs59737607	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59740803	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61656115	0.98[ASN][1000 genomes]
rs619607	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs636444	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6931834	1.00[AFR][1000 genomes]
rs7738114	1.00[AFR][1000 genomes]
rs7758152	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9343271	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9343272	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9352192	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs9443154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443156	0.98[ASN][1000 genomes]
rs9447442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9447445	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[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	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75795200-75811600	Weak transcription	Right Ventricle	heart
2	chr6:75800400-75808800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:75800400-75815600	Genic enhancers	Osteobl	bone
4	chr6:75800600-75809200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:75802400-75813600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:75804400-75808800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:75804600-75814400	Genic enhancers	NHLF	lung
8	chr6:75806600-75818600	Strong transcription	NHEK	skin
9	chr6:75806800-75809000	Enhancers	Fetal Kidney	kidney
10	chr6:75806800-75809400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:75806800-75810000	Enhancers	Colon Smooth Muscle	Colon
12	chr6:75806800-75814000	Genic enhancers	NHDF-Ad	bronchial
13	chr6:75806800-75816000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:75807000-75809800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:75807400-75809600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr6:75807800-75809600	Enhancers	Rectal Smooth Muscle	rectum
17	chr6:75807800-75810000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr6:75808000-75808800	Enhancers	Aorta	Aorta
19	chr6:75808000-75808800	Enhancers	Fetal Stomach	stomach
20	chr6:75808000-75809800	Enhancers	HUVEC	blood vessel
21	chr6:75808000-75810000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr6:75808000-75810000	Genic enhancers	HSMM	muscle
23	chr6:75808200-75808800	Enhancers	Fetal Muscle Leg	muscle
24	chr6:75808200-75808800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:75808200-75809800	Enhancers	NH-A	brain
26	chr6:75808200-75810000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:75808400-75808800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:75808400-75808800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:75808400-75808800	Flanking Active TSS	Fetal Lung	lung
30	chr6:75808400-75808800	Genic enhancers	HSMMtube	muscle
31	chr6:75808400-75809000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:75808400-75809000	Flanking Active TSS	A549	lung
33	chr6:75808400-75809200	Enhancers	Duodenum Mucosa	Duodenum
34	chr6:75808400-75809400	Genic enhancers	HMEC	breast
35	chr6:75808400-75809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:75808400-75809600	Enhancers	Hela-S3	cervix
37	chr6:75808400-75826000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:75808600-75808800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:75808600-75809400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:75808600-75809400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:75808600-75809400	Weak transcription	Adipose Nuclei	Adipose
42	chr6:75808600-75809400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:75808600-75809600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:75808600-75809600	Weak transcription	Ovary	ovary
45	chr6:75808600-75809800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:75808600-75811200	Weak transcription	Fetal Intestine Small	intestine
47	chr6:75808600-75812800	Weak transcription	Fetal Intestine Large	intestine

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