Variant report

Variant	rs2348837
Chromosome Location	chr1:165800914-165800915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:165800662-165801784	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:

Variant related genes	Relation type
TMCO1	TF binding region
ENSG00000224358	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10800160	0.89[CHB][hapmap]
rs11585115	0.93[CEU][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7533364	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556417	0.93[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[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	chr1:165798400-165802200	Weak transcription	Left Ventricle	heart
2	chr1:165798600-165801000	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr1:165798600-165802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:165798600-165811000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:165798800-165801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:165798800-165802200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:165798800-165802400	Weak transcription	Lung	lung
8	chr1:165798800-165802600	Weak transcription	Ovary	ovary
9	chr1:165798800-165811000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:165798800-165811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:165798800-165811400	Weak transcription	Esophagus	oesophagus
12	chr1:165798800-165811800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:165798800-165814200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:165799000-165802000	Weak transcription	Thymus	Thymus
15	chr1:165799000-165802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:165799000-165802200	Weak transcription	Right Atrium	heart
17	chr1:165799000-165802200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:165799000-165804000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:165799000-165805800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:165799000-165807600	Weak transcription	Fetal Lung	lung
21	chr1:165799000-165810600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:165799000-165811000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:165799000-165811200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:165799000-165811800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:165799000-165811800	Weak transcription	Fetal Intestine Large	intestine
26	chr1:165799000-165811800	Weak transcription	Fetal Stomach	stomach
27	chr1:165799000-165818200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:165799200-165801400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:165799200-165801400	Weak transcription	A549	lung
30	chr1:165799200-165801600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:165799200-165801800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:165799200-165802000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:165799200-165802200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:165799200-165802200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:165799200-165802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:165799200-165802400	Weak transcription	NHDF-Ad	bronchial
37	chr1:165799200-165805800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:165799200-165805800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:165799200-165806600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:165799200-165811000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:165799200-165811400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:165799200-165811400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:165799200-165811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:165799200-165815800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:165799400-165801000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:165799400-165801200	Weak transcription	HepG2	liver
47	chr1:165799400-165801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:165799400-165801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:165799400-165801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:165799400-165801600	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links