Variant report

Variant	rs72997360
Chromosome Location	chr1:154939963-154939964
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154939926-154944407	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr1:154939679-154940255	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:154939864-154940327	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:154939686-154940733	K562	blood:	n/a	n/a
5	POLR2A	chr1:154939859-154942258	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:154939926-154941560	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:154939729-154940880	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr1:154939707-154940344	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:154939843-154940520	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154938611..154941490-chr1:155057349..155058983,2	MCF-7	breast:
2	chr1:154939878..154945720-chr1:155033369..155036154,5	MCF-7	breast:
3	chr1:154939910..154941909-chr1:155165314..155168020,2	MCF-7	breast:

No data

Variant related genes	Relation type
SHC1	TF binding region
PYGO2	TF binding region
ENSG00000169231	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000231064	Chromatin interaction
ENSG00000143537	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2361537	1.00[AMR][1000 genomes]
rs61756357	1.00[AMR][1000 genomes]
rs72995422	1.00[AMR][1000 genomes]
rs72995425	1.00[AMR][1000 genomes]
rs72997354	1.00[AMR][1000 genomes]
rs72997362	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009451	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers 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 miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
4	nsv947546	chr1:154935397-154943641	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154934600-154942800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:154935200-154941400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:154935400-154941000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:154935400-154941000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:154935400-154942000	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:154935600-154940000	Strong transcription	Left Ventricle	heart
7	chr1:154935600-154940000	Strong transcription	NH-A	brain
8	chr1:154935600-154940200	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr1:154935600-154940600	Weak transcription	Right Atrium	heart
10	chr1:154935600-154940800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:154935600-154941000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr1:154935600-154941000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:154935600-154941000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:154935600-154941200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:154935600-154941400	Strong transcription	Aorta	Aorta
16	chr1:154935600-154942000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:154935600-154942200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:154935600-154942800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:154935800-154940000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:154935800-154940600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:154935800-154940800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:154935800-154940800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:154935800-154940800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:154935800-154941000	Strong transcription	Rectal Smooth Muscle	rectum
25	chr1:154935800-154941200	Strong transcription	Fetal Intestine Small	intestine
26	chr1:154935800-154941400	Strong transcription	Fetal Intestine Large	intestine
27	chr1:154935800-154941400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:154935800-154941800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:154935800-154941800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:154935800-154942400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:154935800-154942400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:154935800-154942600	Strong transcription	Pancreas	Pancrea
33	chr1:154935800-154942600	Strong transcription	Thymus	Thymus
34	chr1:154936000-154940000	Strong transcription	Right Ventricle	heart
35	chr1:154936000-154940400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:154936000-154940400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:154936000-154940400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:154936000-154940400	Strong transcription	A549	lung
39	chr1:154936000-154940600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:154936000-154941000	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr1:154936000-154941000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:154936000-154941600	Weak transcription	Fetal Heart	heart
43	chr1:154936000-154942800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:154936200-154940000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:154936200-154940000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:154936200-154940200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:154936200-154940600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:154936200-154940800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr1:154936200-154940800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:154936200-154940800	Strong transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links