Variant report

Variant	rs72830125
Chromosome Location	chr6:2021499-2021500
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:2005493..2008020-chr6:2019551..2022122,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11242728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12193559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12197569	1.00[AMR][1000 genomes]
rs12199891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12200671	0.81[EUR][1000 genomes]
rs12200728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12207776	1.00[AMR][1000 genomes]
rs12209238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12213464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830120	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72830127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9391940	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9405538	1.00[AMR][1000 genomes];1.00[EUR][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	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981098	chr6:2008599-2102267	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2006200-2034800	Weak transcription	HepG2	liver
2	chr6:2016000-2026800	Weak transcription	Aorta	Aorta
3	chr6:2019800-2040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:2020600-2022400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:2020600-2022400	Enhancers	Dnd41	blood
6	chr6:2020800-2021600	Enhancers	NHEK	skin
7	chr6:2020800-2022600	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:2020800-2022600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:2020800-2022600	Enhancers	HMEC	breast
10	chr6:2020800-2022600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr6:2020800-2022600	Enhancers	NHDF-Ad	bronchial
12	chr6:2021000-2021600	Enhancers	Primary T cells from cord blood	blood
13	chr6:2021000-2021600	Enhancers	GM12878-XiMat	blood
14	chr6:2021000-2021800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:2021000-2022000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr6:2021000-2022200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:2021000-2022400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:2021000-2022400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:2021000-2022400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:2021000-2022400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:2021000-2022400	Enhancers	Hela-S3	cervix
22	chr6:2021000-2022600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:2021000-2022600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:2021000-2022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:2021000-2023600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:2021200-2021600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:2021200-2021600	Enhancers	Esophagus	oesophagus
28	chr6:2021200-2021600	Enhancers	Thymus	Thymus
29	chr6:2021200-2022000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:2021200-2022000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:2021200-2022200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr6:2021200-2022200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:2021200-2022200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:2021200-2022200	Enhancers	Left Ventricle	heart
35	chr6:2021200-2022200	Enhancers	Ovary	ovary
36	chr6:2021200-2022200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:2021200-2022200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:2021200-2022200	Enhancers	HSMM	muscle
39	chr6:2021200-2022200	Enhancers	HUVEC	blood vessel
40	chr6:2021200-2022400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:2021200-2022400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr6:2021200-2022400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:2021200-2022400	Enhancers	Adipose Nuclei	Adipose
44	chr6:2021200-2022400	Enhancers	Fetal Muscle Leg	muscle
45	chr6:2021200-2022400	Enhancers	Gastric	stomach
46	chr6:2021200-2022400	Enhancers	Psoas Muscle	Psoas
47	chr6:2021200-2022400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr6:2021200-2022400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr6:2021200-2022400	Enhancers	HSMMtube	muscle
50	chr6:2021200-2022400	Enhancers	Osteobl	bone

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