Variant report

Variant	rs71642934
Chromosome Location	chr6:88291995-88291996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:88285212..88293434-chr6:88297589..88302538,14	K562	blood:
2	chr6:88285921..88288874-chr6:88289679..88293937,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146282	Chromatin interaction
ENSG00000135336	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12117260	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12117973	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12118147	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12118992	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12128222	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12132189	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12137400	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12139308	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12139409	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12139735	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12732213	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12744714	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12757035	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34120307	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35986813	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72735313	0.89[AMR][1000 genomes];0.93[EUR][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	nsv1031961	chr6:88110401-88367006	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1031460	chr6:88153079-88410050	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1026482	chr6:88164934-88409728	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1027706	chr6:88168987-88409728	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv538354	chr6:88273858-88311606	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88217800-88295800	Weak transcription	Fetal Brain Male	brain
2	chr6:88227800-88298800	Weak transcription	Esophagus	oesophagus
3	chr6:88228400-88298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:88256200-88297600	Weak transcription	Right Ventricle	heart
5	chr6:88256400-88295800	Weak transcription	Gastric	stomach
6	chr6:88272200-88297000	Weak transcription	Brain Germinal Matrix	brain
7	chr6:88272400-88296000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:88272400-88297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:88272400-88297400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:88272600-88292000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:88273000-88292000	Weak transcription	Colonic Mucosa	Colon
12	chr6:88273000-88296000	Weak transcription	Brain Substantia Nigra	brain
13	chr6:88273600-88292400	Weak transcription	Hela-S3	cervix
14	chr6:88273600-88298200	Weak transcription	Fetal Kidney	kidney
15	chr6:88274200-88295000	Weak transcription	NHLF	lung
16	chr6:88274400-88292200	Weak transcription	Fetal Lung	lung
17	chr6:88274800-88298800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:88278800-88297400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:88282000-88292200	Weak transcription	NHEK	skin
20	chr6:88283000-88292200	Weak transcription	Ovary	ovary
21	chr6:88283000-88296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:88283000-88297000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:88283000-88298600	Weak transcription	Aorta	Aorta
24	chr6:88284400-88293800	Weak transcription	Small Intestine	intestine
25	chr6:88284400-88298000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:88284800-88298200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:88285200-88293600	Weak transcription	Fetal Heart	heart
28	chr6:88285200-88297400	Weak transcription	Brain Anterior Caudate	brain
29	chr6:88285400-88293800	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:88285400-88295600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:88285400-88297200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:88285400-88297600	Weak transcription	Pancreas	Pancrea
33	chr6:88285600-88292000	Weak transcription	HUVEC	blood vessel
34	chr6:88285600-88295800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:88285600-88295800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:88285600-88296000	Weak transcription	Psoas Muscle	Psoas
37	chr6:88285600-88298200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:88285800-88294000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:88285800-88296000	Weak transcription	Spleen	Spleen
40	chr6:88286600-88295800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:88286600-88297800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:88286800-88295000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:88286800-88297800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:88287200-88293200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr6:88288600-88296400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:88288800-88293000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr6:88288800-88293000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:88288800-88294400	Strong transcription	Liver	Liver
49	chr6:88289000-88292000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:88289000-88292600	Strong transcription	Fetal Muscle Leg	muscle

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