Variant report

Variant	rs57722822
Chromosome Location	chr1:61780526-61780527
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	chr1:61777609..61779531-chr1:61779675..61784488,4	K562	blood:
2	chr1:61540510..61542134-chr1:61780390..61782426,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72911960	0.81[AFR][1000 genomes]
rs72911968	0.87[AFR][1000 genomes]
rs72911971	0.90[AFR][1000 genomes]
rs72911974	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61744600-61798600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61755600-61784000	Weak transcription	Esophagus	oesophagus
3	chr1:61760800-61780800	Weak transcription	Fetal Brain Male	brain
4	chr1:61760800-61783800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:61765400-61784000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:61767800-61782200	Weak transcription	Lung	lung
7	chr1:61767800-61783800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:61767800-61784000	Weak transcription	Liver	Liver
9	chr1:61768000-61782000	Weak transcription	Ovary	ovary
10	chr1:61768000-61783600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:61768000-61783800	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:61768000-61783800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:61768000-61784400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:61768200-61781000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:61768400-61780800	Weak transcription	Fetal Heart	heart
16	chr1:61768400-61781600	Weak transcription	Fetal Stomach	stomach
17	chr1:61768600-61782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:61768800-61782000	Weak transcription	Adipose Nuclei	Adipose
19	chr1:61768800-61784400	Weak transcription	A549	lung
20	chr1:61769200-61782000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:61769400-61783600	Weak transcription	NHEK	skin
22	chr1:61769400-61784000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:61773200-61781600	Weak transcription	Psoas Muscle	Psoas
24	chr1:61773400-61783400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:61774200-61783400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:61776000-61784600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:61776200-61782000	Weak transcription	Right Ventricle	heart
28	chr1:61776400-61782000	Weak transcription	K562	blood
29	chr1:61776400-61784000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:61776600-61784000	Weak transcription	Aorta	Aorta
31	chr1:61777800-61784000	Weak transcription	Gastric	stomach
32	chr1:61778000-61781600	Weak transcription	Fetal Brain Female	brain
33	chr1:61778000-61781600	Weak transcription	Left Ventricle	heart
34	chr1:61778000-61782000	Weak transcription	Right Atrium	heart
35	chr1:61778400-61792800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:61778800-61780600	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:61778800-61782000	Weak transcription	Spleen	Spleen
38	chr1:61779000-61784600	Weak transcription	Fetal Intestine Large	intestine
39	chr1:61779200-61783800	Weak transcription	Fetal Lung	lung
40	chr1:61779200-61785200	Weak transcription	Fetal Intestine Small	intestine
41	chr1:61779800-61783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:61779800-61783800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:61779800-61784200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:61780000-61780800	Weak transcription	Brain Anterior Caudate	brain
45	chr1:61780000-61783600	Weak transcription	HUVEC	blood vessel
46	chr1:61780000-61784000	Weak transcription	Pancreas	Pancrea
47	chr1:61780000-61784200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:61780000-61784400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:61780000-61784600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:61780200-61784200	Weak transcription	HepG2	liver

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