Variant report

Variant	rs72929861
Chromosome Location	chr1:61723455-61723456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61721383..61724143-chr1:61726240..61729085,2	K562	blood:
2	chr1:61717984..61721198-chr1:61721381..61725339,4	K562	blood:
3	chr1:61709999..61711668-chr1:61722903..61725455,2	K562	blood:

Variant related genes	Relation type
ENSG00000237853	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10157847	1.00[AMR][1000 genomes]
rs11802718	0.89[AFR][1000 genomes]
rs72911904	0.94[AFR][1000 genomes]
rs72911905	0.94[AFR][1000 genomes]
rs72911907	0.94[AFR][1000 genomes]
rs72911909	0.89[AFR][1000 genomes]
rs72929865	0.94[AFR][1000 genomes]
rs72929868	0.94[AFR][1000 genomes]
rs72929875	0.89[AFR][1000 genomes]
rs72929877	0.89[AFR][1000 genomes]
rs72929880	0.89[AFR][1000 genomes]
rs9988512	0.89[AFR][1000 genomes]
rs9988610	0.89[AFR][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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS 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	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61715600-61725200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:61716000-61725600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:61719400-61737200	Weak transcription	Esophagus	oesophagus
4	chr1:61720800-61755800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:61721000-61724800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:61721000-61725000	Weak transcription	Right Ventricle	heart
7	chr1:61721000-61725000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:61721000-61725000	Weak transcription	HepG2	liver
9	chr1:61721000-61725400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:61721000-61727000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:61721000-61732200	Weak transcription	Aorta	Aorta
12	chr1:61721000-61732800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:61721000-61754400	Weak transcription	Pancreas	Pancrea
14	chr1:61721200-61724600	Weak transcription	Hela-S3	cervix
15	chr1:61721200-61725000	Weak transcription	Fetal Brain Female	brain
16	chr1:61721200-61725000	Weak transcription	K562	blood
17	chr1:61721200-61725200	Weak transcription	Liver	Liver
18	chr1:61721200-61725200	Weak transcription	Right Atrium	heart
19	chr1:61721200-61725600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:61721400-61724400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:61721400-61725200	Weak transcription	Brain Angular Gyrus	brain
22	chr1:61721600-61723600	Weak transcription	Fetal Heart	heart
23	chr1:61721600-61724000	Weak transcription	Fetal Brain Male	brain
24	chr1:61721600-61725000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:61721600-61725000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:61721600-61725000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:61721600-61727000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:61721600-61727200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:61721800-61723600	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:61721800-61724400	Weak transcription	Left Ventricle	heart
31	chr1:61721800-61724600	Weak transcription	NHEK	skin
32	chr1:61721800-61725000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:61721800-61725000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:61721800-61725000	Weak transcription	Adipose Nuclei	Adipose
35	chr1:61721800-61725000	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:61721800-61725000	Weak transcription	Ovary	ovary
37	chr1:61721800-61725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:61721800-61725000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:61721800-61725200	Weak transcription	Fetal Lung	lung
40	chr1:61721800-61725200	Weak transcription	HMEC	breast
41	chr1:61721800-61727000	Weak transcription	Fetal Stomach	stomach
42	chr1:61721800-61728200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:61721800-61731000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:61721800-61732200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:61721800-61734400	Weak transcription	Small Intestine	intestine
46	chr1:61722600-61725000	Weak transcription	Psoas Muscle	Psoas
47	chr1:61722800-61740600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:61723000-61724000	Weak transcription	Brain Germinal Matrix	brain
49	chr1:61723000-61725000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:61723000-61725000	Weak transcription	Brain Hippocampus Middle	brain

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