Variant report

Variant	rs852963
Chromosome Location	chr6:72122506-72122507
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	chr6:72120538..72122700-chr6:72126675..72130838,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GAT2-3	chr6:72122466-72122931	NONHSAT113497

Variant related genes	Relation type
ENSG00000233237	Chromatin interaction
ENSG00000269966	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1192038	0.81[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1527714	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4707914	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6921100	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6927433	0.83[EUR][1000 genomes]
rs828638	0.88[ASN][1000 genomes]
rs852932	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852933	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852959	0.82[EUR][1000 genomes]
rs852966	0.94[CEU][hapmap];0.87[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs852967	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs875842	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72106000-72124800	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:72106400-72126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:72106400-72128600	Weak transcription	Fetal Brain Male	brain
4	chr6:72106800-72128600	Weak transcription	Fetal Brain Female	brain
5	chr6:72106800-72128800	Weak transcription	Brain Germinal Matrix	brain
6	chr6:72107800-72125000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:72114000-72124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:72114200-72125000	Weak transcription	Brain Angular Gyrus	brain
9	chr6:72115400-72125200	Weak transcription	Fetal Intestine Large	intestine
10	chr6:72115600-72123000	Genic enhancers	Muscle Satellite Cultured Cells	--
11	chr6:72116200-72128600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:72117600-72128000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:72118200-72122800	Genic enhancers	HMEC	breast
14	chr6:72118200-72127800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:72118400-72123200	Genic enhancers	HUVEC	blood vessel
16	chr6:72118600-72122600	Genic enhancers	NH-A	brain
17	chr6:72118600-72122600	Genic enhancers	NHDF-Ad	bronchial
18	chr6:72118600-72122800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:72118600-72122800	Enhancers	Brain Anterior Caudate	brain
20	chr6:72119000-72125000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:72119400-72122600	Enhancers	Psoas Muscle	Psoas
22	chr6:72119800-72125200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:72120000-72122600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:72120000-72129000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:72120200-72126600	Weak transcription	Fetal Intestine Small	intestine
26	chr6:72120200-72126600	Weak transcription	Lung	lung
27	chr6:72120400-72122600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:72120400-72123400	ZNF genes & repeats	NHEK	skin
29	chr6:72120800-72122800	Enhancers	NHLF	lung
30	chr6:72121000-72124200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:72121200-72122600	Enhancers	Aorta	Aorta
32	chr6:72121400-72124800	Enhancers	Osteobl	bone
33	chr6:72121600-72123000	Enhancers	Colon Smooth Muscle	Colon
34	chr6:72121600-72123000	Enhancers	Fetal Lung	lung
35	chr6:72121600-72123600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:72121800-72122600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:72121800-72122600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:72121800-72122600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:72121800-72122600	Enhancers	Fetal Heart	heart
40	chr6:72121800-72122600	Enhancers	Gastric	stomach
41	chr6:72121800-72122600	Genic enhancers	Left Ventricle	heart
42	chr6:72121800-72122600	Genic enhancers	Pancreas	Pancrea
43	chr6:72121800-72122600	Enhancers	Rectal Smooth Muscle	rectum
44	chr6:72121800-72122600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:72121800-72122800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:72121800-72122800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
47	chr6:72121800-72124200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:72121800-72124400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:72122000-72122600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:72122000-72122600	Enhancers	Brain Cingulate Gyrus	brain

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