Variant report

Variant	rs12714141
Chromosome Location	chr2:85698515-85698516
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
2	chr2:85697443..85708380-chr2:85764609..85769775,19	K562	blood:
3	chr2:85695182..85700475-chr2:85771258..85775492,7	K562	blood:
4	chr2:85695571..85701406-chr2:85763524..85768199,9	MCF-7	breast:
5	chr2:85671604..85674424-chr2:85697092..85700919,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115486	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000266577	Chromatin interaction
ENSG00000118640	Chromatin interaction

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

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

rs_ID	r²[population]
rs12616455	0.87[ASN][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	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85693400-85701400	Enhancers	Fetal Intestine Small	intestine
2	chr2:85694400-85700600	Enhancers	Fetal Intestine Large	intestine
3	chr2:85695200-85700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:85696000-85698800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:85696000-85699400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:85696200-85698600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:85696200-85698600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:85696200-85698800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:85696200-85699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:85696200-85699600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:85696200-85699600	Enhancers	Liver	Liver
12	chr2:85696200-85699800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:85696200-85703200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:85696400-85698600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:85696400-85698600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:85696400-85699000	Weak transcription	Esophagus	oesophagus
17	chr2:85696400-85699600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:85696400-85702800	Weak transcription	Left Ventricle	heart
19	chr2:85696400-85703200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:85696800-85699200	Enhancers	Thymus	Thymus
21	chr2:85697000-85699600	Weak transcription	HSMMtube	muscle
22	chr2:85697200-85699400	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:85697400-85699200	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:85697600-85698600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:85697600-85698800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:85697600-85698800	Enhancers	Fetal Muscle Leg	muscle
27	chr2:85697600-85698800	Enhancers	Placenta	Placenta
28	chr2:85697600-85699000	Enhancers	Dnd41	blood
29	chr2:85697600-85699400	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:85697600-85699800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:85697600-85699800	Enhancers	Stomach Mucosa	stomach
32	chr2:85697600-85700000	Enhancers	Hela-S3	cervix
33	chr2:85697600-85700800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:85697600-85700800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:85697800-85698600	Enhancers	NHEK	skin
36	chr2:85697800-85698800	Enhancers	Fetal Thymus	thymus
37	chr2:85697800-85699000	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:85697800-85699000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:85697800-85699000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:85697800-85699000	Enhancers	Small Intestine	intestine
41	chr2:85697800-85699000	Flanking Active TSS	HepG2	liver
42	chr2:85697800-85699400	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr2:85697800-85699400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:85697800-85699400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr2:85697800-85699800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:85697800-85700000	Enhancers	HMEC	breast
47	chr2:85698000-85698600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:85698000-85698600	Enhancers	Colonic Mucosa	Colon
49	chr2:85698000-85698800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:85698000-85698800	Enhancers	Primary T helper cells PMA-I stimulated	--

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