Variant report

Variant	rs12079614
Chromosome Location	chr1:165799852-165799853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:165799821-165800073	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:165685761..165688091-chr1:165797394..165800120,2	K562	blood:
2	chr1:165798053..165799867-chr1:165811993..165814835,2	MCF-7	breast:
3	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
4	chr1:165667556..165669480-chr1:165798614..165800246,2	K562	blood:
5	chr1:165797327..165800051-chr1:165876668..165879627,3	MCF-7	breast:
6	chr1:165733730..165736417-chr1:165798667..165800425,2	K562	blood:
7	chr1:165798709..165800702-chr6:26239289..26241961,2	MCF-7	breast:
8	chr1:165598807..165601582-chr1:165797127..165800019,4	K562	blood:
9	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:

No data

Variant related genes	Relation type
TMCO1	TF binding region
ENSG00000143198	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000198327	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000143149	Chromatin interaction

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

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

rs_ID	r²[population]
rs4145763	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72699961	0.93[ASN][1000 genomes]
rs7534738	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	nsv818544	chr1:165797966-165811729	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165796400-165800000	Active TSS	Psoas Muscle	Psoas
2	chr1:165798400-165802200	Weak transcription	Left Ventricle	heart
3	chr1:165798600-165801000	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr1:165798600-165802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:165798600-165811000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:165798800-165801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:165798800-165802200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:165798800-165802400	Weak transcription	Lung	lung
9	chr1:165798800-165802600	Weak transcription	Ovary	ovary
10	chr1:165798800-165811000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:165798800-165811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:165798800-165811400	Weak transcription	Esophagus	oesophagus
13	chr1:165798800-165811800	Weak transcription	Primary B cells from cord blood	blood
14	chr1:165798800-165814200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:165799000-165800200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:165799000-165800600	Enhancers	Fetal Brain Male	brain
17	chr1:165799000-165802000	Weak transcription	Thymus	Thymus
18	chr1:165799000-165802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:165799000-165802200	Weak transcription	Right Atrium	heart
20	chr1:165799000-165802200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:165799000-165804000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:165799000-165805800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:165799000-165807600	Weak transcription	Fetal Lung	lung
24	chr1:165799000-165810600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:165799000-165811000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:165799000-165811200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:165799000-165811800	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:165799000-165811800	Weak transcription	Fetal Intestine Large	intestine
29	chr1:165799000-165811800	Weak transcription	Fetal Stomach	stomach
30	chr1:165799000-165818200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:165799200-165801400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:165799200-165801400	Weak transcription	A549	lung
33	chr1:165799200-165801600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:165799200-165801800	Weak transcription	Fetal Intestine Small	intestine
35	chr1:165799200-165802000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:165799200-165802200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:165799200-165802200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:165799200-165802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:165799200-165802400	Weak transcription	NHDF-Ad	bronchial
40	chr1:165799200-165805800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:165799200-165805800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:165799200-165806600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:165799200-165811000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:165799200-165811400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:165799200-165811400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:165799200-165811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:165799200-165815800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:165799400-165800200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:165799400-165800200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:165799400-165800200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links