Variant report

Variant	rs2704757
Chromosome Location	chr12:63185008-63185009
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62995553..62999958-chr12:63184749..63190188,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257354	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000199179	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2704760	0.83[TSI][hapmap]
rs549433	0.88[CHB][hapmap];0.80[CHD][hapmap];0.85[ASN][1000 genomes]
rs595455	0.88[CHB][hapmap];0.85[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	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2704757	AGAP2	cis	cerebellum	SCAN
rs2704757	DCTN2	cis	parietal	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63175200-63193600	Weak transcription	Gastric	stomach
2	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
3	chr12:63178000-63185400	Weak transcription	Fetal Brain Male	brain
4	chr12:63178200-63187000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:63178400-63186200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:63178400-63192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:63178600-63186200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:63180400-63186000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:63180400-63186800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:63180400-63186800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:63180400-63187600	Weak transcription	Fetal Thymus	thymus
12	chr12:63180400-63192200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:63180400-63199000	Weak transcription	Aorta	Aorta
14	chr12:63180600-63185800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:63180600-63185800	Weak transcription	NHLF	lung
16	chr12:63180600-63187400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:63180600-63188400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:63180800-63186200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:63181000-63187000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:63181000-63187200	Weak transcription	Brain Anterior Caudate	brain
21	chr12:63181000-63187200	Weak transcription	Right Atrium	heart
22	chr12:63181200-63185800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:63181200-63187200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:63181200-63187600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:63181200-63197800	Weak transcription	Spleen	Spleen
26	chr12:63181200-63198200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:63181200-63200400	Weak transcription	Lung	lung
28	chr12:63181600-63186000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:63181600-63191000	Weak transcription	Fetal Intestine Large	intestine
30	chr12:63181600-63194600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:63181800-63185800	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:63181800-63185800	Weak transcription	NH-A	brain
33	chr12:63181800-63186200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:63181800-63187600	Weak transcription	Placenta	Placenta
35	chr12:63182000-63193800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:63182200-63185600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:63182200-63186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:63182200-63186200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:63182400-63185600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:63182400-63185600	Weak transcription	Osteobl	bone
41	chr12:63182400-63185800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:63182400-63186000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:63182400-63186200	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:63182400-63187400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:63182400-63192600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:63182600-63185600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:63182600-63185800	Weak transcription	NHDF-Ad	bronchial
48	chr12:63182600-63186200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:63182600-63186800	Weak transcription	Brain Angular Gyrus	brain
50	chr12:63182600-63187000	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links