Variant report

Variant	rs12734494
Chromosome Location	chr1:211803881-211803882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211779113..211779919-chr1:211803601..211804198,2	K562	blood:
2	chr1:211802788..211806999-chr1:211814684..211819078,4	K562	blood:
3	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
4	chr1:211750683..211751727-chr1:211803429..211804168,3	K562	blood:
5	chr1:211688552..211689424-chr1:211803240..211804149,2	K562	blood:
6	chr1:211793145..211800078-chr1:211800841..211805263,11	K562	blood:
7	chr1:211741510..211743942-chr1:211802313..211805190,2	K562	blood:
8	chr1:211751888..211754442-chr1:211802354..211807016,4	K562	blood:
9	chr1:211723836..211726328-chr1:211802302..211805262,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction
ENSG00000170385	Chromatin interaction

rs_ID	r²[population]
rs10158305	0.92[ASN][1000 genomes]
rs10158307	0.92[ASN][1000 genomes]
rs10158309	0.92[ASN][1000 genomes]
rs10158749	0.92[ASN][1000 genomes]
rs10158790	0.92[ASN][1000 genomes]
rs10158874	0.92[ASN][1000 genomes]
rs10159253	0.92[ASN][1000 genomes]
rs11119783	0.90[ASN][1000 genomes]
rs11119785	0.87[ASN][1000 genomes]
rs11119786	0.87[ASN][1000 genomes]
rs11576789	0.87[ASN][1000 genomes]
rs11577255	0.87[ASN][1000 genomes]
rs12142250	0.92[ASN][1000 genomes]
rs12744873	0.83[ASN][1000 genomes]
rs12758005	0.90[ASN][1000 genomes]
rs1373293	0.92[ASN][1000 genomes]
rs34451435	0.87[ASN][1000 genomes]
rs35531215	0.90[ASN][1000 genomes]
rs6669878	0.92[ASN][1000 genomes]
rs6693364	0.90[ASN][1000 genomes]

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211800000-211807200	Enhancers	Fetal Heart	heart
2	chr1:211802000-211806400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:211802800-211804200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:211803000-211804800	Enhancers	Fetal Intestine Small	intestine
5	chr1:211803400-211804000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:211803400-211804000	Bivalent Enhancer	NHEK	skin
7	chr1:211803400-211804200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:211803400-211804200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:211803400-211804200	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr1:211803400-211804800	Enhancers	Fetal Intestine Large	intestine
11	chr1:211803400-211804800	Enhancers	Placenta	Placenta
12	chr1:211803400-211804800	Flanking Active TSS	K562	blood
13	chr1:211803400-211805000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr1:211803400-211805000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:211803400-211806000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:211803400-211807000	Enhancers	Ovary	ovary
17	chr1:211803400-211807600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:211803400-211807600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:211803600-211804000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:211803600-211804000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:211803600-211804000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:211803600-211804000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:211803600-211804000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:211803600-211804000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:211803600-211804000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr1:211803600-211804000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:211803600-211804000	Enhancers	Gastric	stomach
28	chr1:211803600-211804000	Active TSS	Right Ventricle	heart
29	chr1:211803600-211804000	Enhancers	Spleen	Spleen
30	chr1:211803600-211804200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:211803600-211804200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:211803600-211804200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:211803600-211804200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:211803600-211804200	Enhancers	Esophagus	oesophagus
35	chr1:211803600-211804400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:211803600-211804400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:211803600-211804800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:211803600-211805000	Enhancers	Fetal Lung	lung
39	chr1:211803600-211807200	Enhancers	Fetal Muscle Trunk	muscle
40	chr1:211803600-211807200	Enhancers	Fetal Muscle Leg	muscle
41	chr1:211803800-211804000	Enhancers	Hela-S3	cervix
42	chr1:211803800-211804000	Enhancers	HMEC	breast
43	chr1:211803800-211804000	Enhancers	NH-A	brain
44	chr1:211803800-211804200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr1:211803800-211804200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:211803800-211804200	Flanking Active TSS	Left Ventricle	heart
47	chr1:211803800-211804200	Flanking Active TSS	Right Atrium	heart
48	chr1:211803800-211804200	Enhancers	A549	lung
49	chr1:211803800-211807600	Enhancers	Fetal Thymus	thymus

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