Variant report

Variant	rs72757073
Chromosome Location	chr1:226295974-226295975
allele	C/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226185830..226192188-chr1:226295102..226300995,14	K562	blood:
2	chr1:226268789..226272906-chr1:226295898..226299182,7	MCF-7	breast:
3	chr1:226286961..226289894-chr1:226295202..226296764,2	MCF-7	breast:
4	chr1:226252953..226257459-chr1:226295699..226299600,6	K562	blood:
5	chr1:226295177..226301855-chr1:226303668..226313005,25	K562	blood:
6	chr1:226295676..226301816-chr1:226302378..226313716,36	MCF-7	breast:
7	chr1:226275598..226277765-chr1:226293845..226296301,2	MCF-7	breast:
8	chr1:226292542..226298942-chr1:226306858..226311185,7	K562	blood:
9	chr1:226261864..226264006-chr1:226295476..226297879,2	MCF-7	breast:
10	chr1:226295550..226298881-chr1:226372449..226374303,3	K562	blood:
11	chr1:226294173..226296848-chr1:226297269..226298871,2	MCF-7	breast:
12	chr1:226290752..226294518-chr1:226294723..226300130,8	K562	blood:
13	chr1:226248728..226252252-chr1:226295575..226300283,12	MCF-7	breast:
14	chr1:226246090..226252706-chr1:226295668..226300269,21	K562	blood:
15	chr1:226248153..226256692-chr1:226295520..226301397,23	MCF-7	breast:
16	chr1:226259247..226261395-chr1:226295322..226298055,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143751	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34374657	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226286200-226297200	Weak transcription	Hela-S3	cervix
2	chr1:226288600-226296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:226289000-226296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:226289000-226296400	Weak transcription	Right Atrium	heart
5	chr1:226289000-226296600	Weak transcription	Right Ventricle	heart
6	chr1:226289000-226296600	Weak transcription	NHLF	lung
7	chr1:226289000-226297000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:226289000-226297000	Weak transcription	HUVEC	blood vessel
9	chr1:226289200-226297000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:226292600-226296800	Weak transcription	Lung	lung
11	chr1:226292800-226296200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:226292800-226296200	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:226292800-226296600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:226292800-226296600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:226292800-226296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:226292800-226296600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:226292800-226296600	Weak transcription	HSMM	muscle
18	chr1:226293000-226296200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:226293000-226296400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:226293000-226296600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:226293000-226296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:226293000-226296600	Weak transcription	HMEC	breast
23	chr1:226293000-226296600	Weak transcription	HSMMtube	muscle
24	chr1:226293000-226296800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:226293000-226297200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:226293000-226297400	Weak transcription	Spleen	Spleen
27	chr1:226293200-226296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:226293400-226296600	Weak transcription	Fetal Stomach	stomach
29	chr1:226293600-226296600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:226294600-226296000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:226295000-226296000	Enhancers	Placenta	Placenta
32	chr1:226295000-226297000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:226295000-226297000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:226295000-226297000	Enhancers	Primary B cells from cord blood	blood
35	chr1:226295000-226297200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:226295000-226297200	Enhancers	K562	blood
37	chr1:226295200-226296800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:226295200-226297000	Enhancers	Esophagus	oesophagus
39	chr1:226295200-226297200	Enhancers	Primary B cells from peripheral blood	blood
40	chr1:226295400-226296000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:226295400-226296400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:226295400-226296400	Weak transcription	Stomach Mucosa	stomach
43	chr1:226295400-226296600	Weak transcription	NHEK	skin
44	chr1:226295400-226297200	Weak transcription	Gastric	stomach
45	chr1:226295600-226296400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:226295600-226296600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:226295600-226296600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:226295600-226296600	Weak transcription	Osteobl	bone
49	chr1:226295600-226296800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:226295600-226296800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links