Variant report

Variant	rs2983157
Chromosome Location	chr1:61850811-61850812
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	chr1:61821605..61823467-chr1:61848525..61850991,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11807521	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12064509	0.82[ASN][1000 genomes]
rs17122061	0.81[ASN][1000 genomes]
rs17265629	0.83[EUR][1000 genomes]
rs17356741	0.85[EUR][1000 genomes]
rs2474394	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1014023	chr1:61788310-61859074	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv534981	chr1:61788310-61859074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61804400-61851400	Weak transcription	Small Intestine	intestine
2	chr1:61804400-61854600	Weak transcription	Placenta	Placenta
3	chr1:61823400-61854800	Weak transcription	Spleen	Spleen
4	chr1:61826200-61851600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:61828200-61854600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:61834800-61852000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:61836800-61852200	Weak transcription	Esophagus	oesophagus
8	chr1:61839600-61854400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:61841400-61858200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:61841600-61852200	Weak transcription	Right Atrium	heart
11	chr1:61841600-61854800	Weak transcription	HMEC	breast
12	chr1:61841600-61855600	Weak transcription	NHEK	skin
13	chr1:61841800-61854400	Weak transcription	Right Ventricle	heart
14	chr1:61843800-61855800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:61844600-61851200	Weak transcription	K562	blood
16	chr1:61847000-61869600	Weak transcription	Brain Angular Gyrus	brain
17	chr1:61847200-61854200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:61847600-61857400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:61847800-61852800	Weak transcription	HUVEC	blood vessel
20	chr1:61847800-61853600	Weak transcription	A549	lung
21	chr1:61848200-61853400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:61848600-61853800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:61848600-61854200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:61848600-61854400	Strong transcription	Liver	Liver
25	chr1:61848600-61854600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:61848800-61851600	Strong transcription	Adipose Nuclei	Adipose
27	chr1:61848800-61853400	Strong transcription	Fetal Stomach	stomach
28	chr1:61848800-61854000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr1:61848800-61854400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:61848800-61856000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr1:61848800-61856000	Strong transcription	Fetal Intestine Large	intestine
32	chr1:61849000-61852000	Strong transcription	Ovary	ovary
33	chr1:61849000-61853000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:61849000-61854400	Strong transcription	Fetal Lung	lung
35	chr1:61849200-61853200	Weak transcription	Osteobl	bone
36	chr1:61849400-61851000	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:61849400-61851400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:61849400-61854400	Weak transcription	Pancreas	Pancrea
39	chr1:61849400-61863400	Weak transcription	Psoas Muscle	Psoas
40	chr1:61849600-61851000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:61849600-61851200	Weak transcription	Gastric	stomach
42	chr1:61849600-61851400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:61849600-61851400	Weak transcription	Fetal Heart	heart
44	chr1:61849600-61851600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:61849600-61854400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:61849600-61854600	Weak transcription	Lung	lung
47	chr1:61849600-61854800	Weak transcription	Aorta	Aorta
48	chr1:61849600-61854800	Weak transcription	Fetal Brain Female	brain
49	chr1:61849600-61854800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:61849600-61857800	Weak transcription	Monocytes-CD14+_RO01746	blood

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