Variant report

Variant	rs61747439
Chromosome Location	chr2:234762500-234762501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234761504..234764477-chr2:234824983..234827662,2	MCF-7	breast:
2	chr2:234760939..234763453-chr2:235403879..235406192,2	K562	blood:
3	chr2:234473931..234475939-chr2:234762064..234763860,2	K562	blood:
4	chr2:234387565..234390486-chr2:234761608..234763193,2	MCF-7	breast:
5	chr2:233739634..233741752-chr2:234762062..234763820,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188042	Chromatin interaction
ENSG00000144481	Chromatin interaction
ENSG00000182600	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs763379	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
3	nsv876023	chr2:234726154-234763137	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234736400-234762600	Weak transcription	Right Atrium	heart
2	chr2:234756600-234762600	Transcr. at gene 5' and 3'	A549	lung
3	chr2:234759000-234762600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr2:234760400-234763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:234760600-234762600	Flanking Active TSS	HUVEC	blood vessel
6	chr2:234760800-234762800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:234760800-234762800	Flanking Active TSS	Thymus	Thymus
8	chr2:234760800-234763000	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr2:234761000-234762600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:234761200-234762800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr2:234761200-234763600	Active TSS	NHLF	lung
12	chr2:234761200-234764000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:234761400-234763800	Active TSS	NHDF-Ad	bronchial
14	chr2:234761400-234764000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr2:234761600-234762800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr2:234761600-234762800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:234761600-234762800	Flanking Active TSS	Fetal Stomach	stomach
18	chr2:234761600-234763000	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr2:234761600-234763600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:234761600-234763600	Active TSS	Hela-S3	cervix
21	chr2:234761600-234763800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr2:234761600-234763800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:234761600-234763800	Active TSS	Fetal Kidney	kidney
24	chr2:234761600-234763800	Active TSS	GM12878-XiMat	blood
25	chr2:234761800-234762600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:234761800-234762600	Flanking Active TSS	Fetal Heart	heart
27	chr2:234761800-234762600	Flanking Active TSS	NH-A	brain
28	chr2:234761800-234762800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:234761800-234762800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr2:234761800-234763000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr2:234761800-234763000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:234761800-234763400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:234761800-234763600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr2:234761800-234763800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:234761800-234763800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:234761800-234763800	Active TSS	Fetal Intestine Small	intestine
37	chr2:234761800-234763800	Active TSS	Rectal Smooth Muscle	rectum
38	chr2:234761800-234764000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:234761800-234764000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr2:234762000-234762600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:234762000-234762600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:234762000-234762600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:234762000-234762600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:234762000-234762600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:234762000-234762600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:234762000-234762600	Flanking Active TSS	Fetal Lung	lung
47	chr2:234762000-234762600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr2:234762000-234762800	Flanking Active TSS	Fetal Thymus	thymus
49	chr2:234762000-234763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:234762000-234763000	Flanking Active TSS	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links