Variant report

Variant	rs633972
Chromosome Location	chr1:211782129-211782130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211781693..211784457-chr1:211822859..211825401,2	K562	blood:
2	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
3	chr1:211749584..211755940-chr1:211774898..211785859,28	K562	blood:
4	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
5	chr1:211775675..211778278-chr1:211779018..211782912,5	K562	blood:
6	chr1:211770870..211774910-chr1:211776208..211782840,10	K562	blood:

Variant related genes	Relation type
ENSG00000261314	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17640020	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17696510	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28408172	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603227	0.82[ASN][1000 genomes]
rs61851767	0.81[ASN][1000 genomes]
rs6540692	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9430076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:211777000-211782600	Weak transcription	Hela-S3	cervix
3	chr1:211777000-211786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:211777200-211782600	Weak transcription	Osteobl	bone
5	chr1:211777200-211786200	Weak transcription	NHLF	lung
6	chr1:211777400-211784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:211777400-211784200	Weak transcription	NHDF-Ad	bronchial
8	chr1:211777600-211782600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:211778600-211782600	Weak transcription	A549	lung
10	chr1:211779200-211784600	Weak transcription	Right Atrium	heart
11	chr1:211779600-211784600	Weak transcription	Lung	lung
12	chr1:211780000-211784200	Weak transcription	Brain Anterior Caudate	brain
13	chr1:211780000-211784200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:211780000-211784800	Weak transcription	Esophagus	oesophagus
15	chr1:211780400-211782400	Enhancers	Fetal Intestine Small	intestine
16	chr1:211780400-211783800	Enhancers	Spleen	Spleen
17	chr1:211780600-211782600	Enhancers	Fetal Intestine Large	intestine
18	chr1:211780600-211784000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:211780800-211782400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:211780800-211782800	Weak transcription	Brain Substantia Nigra	brain
21	chr1:211780800-211782800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:211780800-211783200	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:211780800-211786400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:211781000-211784200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:211781000-211784200	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:211781000-211784200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:211781000-211784600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:211781000-211785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:211781000-211786400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:211781200-211782200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:211781200-211782600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:211781200-211782600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:211781200-211782800	Enhancers	HepG2	liver
34	chr1:211781200-211785000	Enhancers	Liver	Liver
35	chr1:211781200-211785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:211781200-211786200	Enhancers	K562	blood
37	chr1:211781400-211786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:211781600-211782200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:211781600-211784000	Weak transcription	Adipose Nuclei	Adipose
40	chr1:211781600-211787000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:211781800-211782200	Enhancers	Small Intestine	intestine
42	chr1:211781800-211782200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr1:211781800-211782800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:211781800-211783400	Enhancers	Ovary	ovary
45	chr1:211781800-211784200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:211781800-211784800	Weak transcription	Placenta	Placenta
47	chr1:211781800-211786400	Weak transcription	Stomach Mucosa	stomach
48	chr1:211781800-211792000	Weak transcription	Primary B cells from cord blood	blood
49	chr1:211782000-211784600	Weak transcription	Pancreas	Pancrea
50	chr1:211782000-211784800	Weak transcription	Colonic Mucosa	Colon

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