Variant report

Variant	rs1966704
Chromosome Location	chr2:190415033-190415034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190411762..190417364-chr2:190417405..190425188,8	MCF-7	breast:
2	chr2:190414866..190419977-chr2:190441095..190445782,6	K562	blood:
3	chr2:190414738..190416989-chr2:190420229..190423224,2	K562	blood:

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16831659	0.84[EUR][1000 genomes]
rs2043933	0.84[EUR][1000 genomes]
rs2165180	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667287	0.82[EUR][1000 genomes]
rs6434347	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7596205	0.84[EUR][1000 genomes]
rs994226	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190407400-190424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:190408000-190416600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:190408200-190416600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:190408200-190420600	Weak transcription	Small Intestine	intestine
5	chr2:190408800-190416400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:190408800-190422400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:190410600-190416400	Weak transcription	Aorta	Aorta
8	chr2:190411200-190420600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:190412800-190415200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:190413000-190424200	Weak transcription	Fetal Heart	heart
11	chr2:190413400-190415200	Enhancers	Fetal Muscle Leg	muscle
12	chr2:190413600-190416200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:190413600-190416800	Enhancers	Fetal Lung	lung
14	chr2:190413800-190416600	Enhancers	Liver	Liver
15	chr2:190414000-190424600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:190414200-190415200	Enhancers	HSMMtube	muscle
17	chr2:190414200-190415200	Enhancers	NHDF-Ad	bronchial
18	chr2:190414200-190416400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:190414200-190416600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:190414200-190416600	Weak transcription	Fetal Kidney	kidney
21	chr2:190414200-190416800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:190414200-190416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:190414200-190419000	Weak transcription	Placenta	Placenta
24	chr2:190414200-190420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:190414200-190420600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:190414200-190422600	Weak transcription	HMEC	breast
27	chr2:190414200-190422800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:190414200-190423200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:190414400-190416200	Weak transcription	Hela-S3	cervix
30	chr2:190414400-190416400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:190414400-190416400	Weak transcription	K562	blood
32	chr2:190414400-190416600	Weak transcription	Stomach Mucosa	stomach
33	chr2:190414400-190419000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:190414400-190419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:190414400-190422400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:190414600-190424200	Weak transcription	Dnd41	blood
37	chr2:190414800-190415400	Enhancers	HSMM	muscle
38	chr2:190414800-190416000	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:190414800-190416000	Weak transcription	A549	lung
40	chr2:190414800-190416200	Weak transcription	HepG2	liver
41	chr2:190414800-190416600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:190414800-190416600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:190414800-190416600	Weak transcription	Osteobl	bone
44	chr2:190414800-190417600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:190415000-190415200	Enhancers	Fetal Stomach	stomach
46	chr2:190415000-190416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:190415000-190416400	Weak transcription	Left Ventricle	heart
48	chr2:190415000-190416400	Weak transcription	Ovary	ovary
49	chr2:190415000-190416600	Weak transcription	Adipose Nuclei	Adipose
50	chr2:190415000-190416800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links