Variant report

Variant	rs73480278
Chromosome Location	chr6:71282556-71282557
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	chr6:71280711..71283230-chr6:71283739..71285728,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs4084006	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57211713	1.00[AFR][1000 genomes]
rs57247959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57627989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58125338	1.00[AMR][1000 genomes]
rs58605827	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60954115	1.00[AFR][1000 genomes]
rs6906657	1.00[AMR][1000 genomes]
rs73472767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472779	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472783	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472786	1.00[AMR][1000 genomes]
rs73472788	1.00[AMR][1000 genomes]
rs73472800	1.00[AMR][1000 genomes]
rs73474931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474964	1.00[AMR][1000 genomes]
rs73474983	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476884	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476888	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73478818	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482575	0.82[AFR][1000 genomes]
rs73485119	0.82[AFR][1000 genomes]
rs73485122	0.82[AFR][1000 genomes]
rs73485130	0.82[AFR][1000 genomes]
rs73485141	1.00[AFR][1000 genomes]
rs73485161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488128	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7752725	1.00[AMR][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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71277200-71285600	Weak transcription	Aorta	Aorta
2	chr6:71277200-71285800	Weak transcription	Lung	lung
3	chr6:71277200-71289200	Weak transcription	Ovary	ovary
4	chr6:71277200-71290000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:71277200-71290000	Weak transcription	Left Ventricle	heart
6	chr6:71277200-71290000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:71277200-71290600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:71277200-71290600	Weak transcription	Brain Substantia Nigra	brain
9	chr6:71277200-71292000	Weak transcription	Small Intestine	intestine
10	chr6:71277200-71292400	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:71277200-71294400	Weak transcription	HSMM	muscle
12	chr6:71277200-71296800	Weak transcription	Pancreas	Pancrea
13	chr6:71277200-71300200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:71277200-71303200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:71277200-71310600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:71277400-71288600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:71277400-71289200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:71277400-71289200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:71277400-71289200	Weak transcription	Brain Anterior Caudate	brain
20	chr6:71277400-71289200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:71277400-71289200	Weak transcription	Osteobl	bone
22	chr6:71277400-71289400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:71277400-71289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:71277400-71289600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:71277400-71289800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:71277400-71289800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:71277400-71289800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:71277400-71290000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:71277400-71290000	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:71277400-71290000	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:71277400-71290000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:71277400-71290400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:71277400-71290600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:71277400-71290600	Weak transcription	Fetal Intestine Small	intestine
35	chr6:71277400-71294200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:71277400-71294800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:71277400-71295000	Weak transcription	HUVEC	blood vessel
38	chr6:71277400-71299000	Weak transcription	NHDF-Ad	bronchial
39	chr6:71277400-71300600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:71277400-71301800	Weak transcription	HSMMtube	muscle
41	chr6:71277400-71302000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:71277400-71302200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:71277400-71302800	Weak transcription	Thymus	Thymus
44	chr6:71277600-71289000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:71277600-71289800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:71277600-71291000	Weak transcription	Fetal Thymus	thymus
47	chr6:71277800-71289000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:71277800-71289200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:71277800-71289200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:71277800-71289200	Weak transcription	Placenta	Placenta

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