Variant report

Variant	rs73482575
Chromosome Location	chr6:71196276-71196277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:71122464..71124155-chr6:71195553..71199266,3	K562	blood:
2	chr6:71195034..71197848-chr6:71198346..71201076,2	K562	blood:
3	chr6:71195612..71198430-chr6:71216312..71218280,2	K562	blood:

Variant related genes	Relation type
ENSG00000082269	Chromatin interaction
ENSG00000224349	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs57211713	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57247959	0.82[AFR][1000 genomes]
rs57627989	0.82[AFR][1000 genomes]
rs58345280	1.00[AMR][1000 genomes]
rs58605827	1.00[AFR][1000 genomes]
rs60954115	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6930996	0.84[AFR][1000 genomes]
rs73474939	0.82[AFR][1000 genomes]
rs73474948	0.82[AFR][1000 genomes]
rs73474957	0.82[AFR][1000 genomes]
rs73474960	0.82[AFR][1000 genomes]
rs73474983	1.00[AFR][1000 genomes]
rs73476884	1.00[AFR][1000 genomes]
rs73476888	1.00[AFR][1000 genomes]
rs73478818	1.00[AFR][1000 genomes]
rs73480278	0.82[AFR][1000 genomes]
rs73482214	0.82[AFR][1000 genomes]
rs73485119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485161	0.82[AFR][1000 genomes]
rs73485167	0.82[AFR][1000 genomes]
rs73485171	0.82[AFR][1000 genomes]
rs73489065	0.82[AFR][1000 genomes]
rs73489072	0.82[AFR][1000 genomes]
rs73489087	0.82[AFR][1000 genomes]
rs7775714	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	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71134000-71213400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:71136800-71213600	Weak transcription	Brain Substantia Nigra	brain
3	chr6:71158200-71212400	Weak transcription	Fetal Brain Male	brain
4	chr6:71158400-71198000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:71158400-71213600	Weak transcription	NHEK	skin
6	chr6:71158800-71212600	Weak transcription	Colonic Mucosa	Colon
7	chr6:71175000-71197400	Weak transcription	Fetal Thymus	thymus
8	chr6:71178000-71210400	Weak transcription	Lung	lung
9	chr6:71180400-71212600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:71180800-71200000	Weak transcription	Brain Anterior Caudate	brain
11	chr6:71181600-71213600	Weak transcription	HMEC	breast
12	chr6:71181600-71215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:71182000-71196600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:71183800-71216200	Weak transcription	Pancreas	Pancrea
15	chr6:71184000-71212800	Weak transcription	A549	lung
16	chr6:71184200-71199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:71184400-71199800	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:71184400-71210400	Weak transcription	Fetal Stomach	stomach
19	chr6:71184600-71199400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:71184600-71209600	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:71184600-71210600	Weak transcription	Esophagus	oesophagus
22	chr6:71184600-71213400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:71185200-71213400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:71185400-71197600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:71185800-71212600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:71185800-71212800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:71186000-71210400	Weak transcription	Aorta	Aorta
28	chr6:71187200-71198000	Weak transcription	HUVEC	blood vessel
29	chr6:71187200-71212400	Weak transcription	Fetal Kidney	kidney
30	chr6:71187200-71212800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:71187400-71197000	Weak transcription	Fetal Brain Female	brain
32	chr6:71187400-71198200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr6:71187400-71199400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:71187400-71202400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:71187400-71210800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr6:71187400-71211200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:71187400-71212400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr6:71187400-71212400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:71187400-71212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:71187400-71212800	Weak transcription	Right Ventricle	heart
41	chr6:71187400-71218200	Weak transcription	Small Intestine	intestine
42	chr6:71187800-71211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:71187800-71212400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:71188000-71198800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:71188200-71212800	Weak transcription	HepG2	liver
46	chr6:71188400-71212200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr6:71189200-71212600	Weak transcription	Fetal Heart	heart
48	chr6:71189400-71200800	Weak transcription	HSMM	muscle
49	chr6:71189400-71210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:71189800-71209400	Weak transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links