Variant report

Variant	rs11964427
Chromosome Location	chr6:4606156-4606157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4585158..4587342-chr6:4603749..4606503,2	MCF-7	breast:
2	chr6:4601505..4603151-chr6:4605939..4607714,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260673	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11751457	0.88[EUR][1000 genomes]
rs11756102	0.85[EUR][1000 genomes]
rs11962754	0.90[EUR][1000 genomes]
rs17138534	0.90[EUR][1000 genomes]
rs2235724	0.90[EUR][1000 genomes]
rs377207	0.87[EUR][1000 genomes]
rs378901	0.85[EUR][1000 genomes]
rs385236	0.87[EUR][1000 genomes]
rs385884	0.87[EUR][1000 genomes]
rs390126	0.87[EUR][1000 genomes]
rs390617	0.82[EUR][1000 genomes]
rs413716	0.87[EUR][1000 genomes]
rs418563	0.87[EUR][1000 genomes]
rs421930	0.87[EUR][1000 genomes]
rs424137	0.87[EUR][1000 genomes]
rs438021	0.82[EUR][1000 genomes]
rs453768	0.87[EUR][1000 genomes]
rs4960004	0.87[EUR][1000 genomes]
rs4960009	0.91[EUR][1000 genomes]
rs601192	0.87[EUR][1000 genomes]
rs62384944	0.88[EUR][1000 genomes]
rs6911463	0.91[EUR][1000 genomes]
rs6912325	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913171	0.87[EUR][1000 genomes]
rs7764724	0.89[ASN][1000 genomes]
rs9328262	0.90[EUR][1000 genomes]
rs9502199	0.87[EUR][1000 genomes]
rs9502200	0.87[EUR][1000 genomes]
rs9502206	0.91[EUR][1000 genomes]
rs9502208	1.00[ASN][1000 genomes]
rs9504151	0.87[EUR][1000 genomes]
rs9504156	0.90[EUR][1000 genomes]
rs9504159	0.91[EUR][1000 genomes]
rs9504163	0.88[EUR][1000 genomes]
rs9504165	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9504166	0.92[EUR][1000 genomes]
rs9504168	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9504169	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv970370	chr6:4605843-4619763	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4600000-4606800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:4601000-4607000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:4601200-4606400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:4601200-4606400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:4601200-4606400	Weak transcription	Right Ventricle	heart
6	chr6:4601400-4607000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:4601600-4606800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:4601800-4607000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:4602600-4606400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:4603400-4608800	Weak transcription	Spleen	Spleen
11	chr6:4603600-4606400	Weak transcription	Adipose Nuclei	Adipose
12	chr6:4603600-4606800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:4603600-4607200	Weak transcription	Esophagus	oesophagus
14	chr6:4603800-4606400	Weak transcription	Lung	lung
15	chr6:4604000-4606800	Weak transcription	HSMMtube	muscle
16	chr6:4604000-4607200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:4604000-4607200	Weak transcription	NHLF	lung
18	chr6:4604400-4606200	Weak transcription	HMEC	breast
19	chr6:4604400-4606400	Weak transcription	Placenta	Placenta
20	chr6:4604400-4606600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:4604400-4606600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:4604400-4606600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:4604400-4606600	Weak transcription	Osteobl	bone
24	chr6:4604400-4606800	Weak transcription	HUVEC	blood vessel
25	chr6:4604400-4606800	Weak transcription	NH-A	brain
26	chr6:4604400-4607000	Weak transcription	NHDF-Ad	bronchial
27	chr6:4604400-4607200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:4604400-4607200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:4604400-4607800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:4604400-4610200	Weak transcription	Fetal Heart	heart
31	chr6:4604600-4606400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:4604600-4606400	Weak transcription	HSMM	muscle
33	chr6:4605400-4607000	Weak transcription	Right Atrium	heart
34	chr6:4605400-4607600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:4605800-4606800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:4606000-4607200	Enhancers	Fetal Muscle Trunk	muscle
37	chr6:4606000-4616800	Enhancers	Fetal Muscle Leg	muscle

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