Variant report

Variant	rs7515023
Chromosome Location	chr1:226300488-226300489
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226185830..226192188-chr1:226295102..226300995,14	K562	blood:
2	chr1:226299067..226303074-chr1:226308302..226311904,7	K562	blood:
3	chr1:226184406..226191885-chr1:226296440..226300646,16	K562	blood:
4	chr1:226291063..226294065-chr1:226297850..226301516,3	MCF-7	breast:
5	chr1:226295177..226301855-chr1:226303668..226313005,25	K562	blood:
6	chr1:226295676..226301816-chr1:226302378..226313716,36	MCF-7	breast:
7	chr1:226269927..226271964-chr1:226297676..226300646,3	K562	blood:
8	chr1:226299228..226300786-chr1:226305720..226307494,2	K562	blood:
9	chr1:226106901..226109503-chr1:226300176..226301873,2	K562	blood:
10	chr1:226259780..226262512-chr1:226298395..226301346,2	K562	blood:
11	chr1:226268761..226273887-chr1:226296275..226301554,11	MCF-7	breast:
12	chr1:226247341..226256471-chr1:226296212..226302215,23	K562	blood:
13	chr1:226248153..226256692-chr1:226295520..226301397,23	MCF-7	breast:

No data

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

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10915934	0.83[EUR][1000 genomes]
rs10915936	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577282	0.95[CEU][hapmap];0.87[CHB][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs12117683	0.81[EUR][1000 genomes]
rs12117819	0.81[EUR][1000 genomes]
rs12121071	0.88[EUR][1000 genomes]
rs1355391	0.86[CEU][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs6693755	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7552463	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226298800-226300600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:226298800-226303800	Weak transcription	Ovary	ovary
3	chr1:226299000-226300600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:226299000-226300600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:226299000-226300600	Enhancers	Brain Germinal Matrix	brain
6	chr1:226299000-226301000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:226299000-226301600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:226299000-226301800	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:226299000-226303400	Weak transcription	NHEK	skin
10	chr1:226299000-226303800	Weak transcription	HMEC	breast
11	chr1:226299000-226308800	Weak transcription	A549	lung
12	chr1:226299200-226300600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:226299200-226300600	Enhancers	Right Ventricle	heart
14	chr1:226299400-226300600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:226299400-226300800	Bivalent Enhancer	HepG2	liver
16	chr1:226299400-226303800	Weak transcription	Fetal Thymus	thymus
17	chr1:226299600-226300600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr1:226299600-226300600	Enhancers	Fetal Heart	heart
19	chr1:226299600-226300600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:226299600-226300800	Enhancers	Fetal Muscle Leg	muscle
21	chr1:226299600-226301000	Enhancers	K562	blood
22	chr1:226299600-226303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:226299600-226303800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:226299600-226304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:226299600-226308400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:226299600-226308800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:226299800-226300600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:226299800-226300800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:226299800-226300800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:226299800-226300800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:226299800-226300800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:226299800-226300800	Enhancers	HSMMtube	muscle
33	chr1:226299800-226303400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:226299800-226303400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:226299800-226303800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:226299800-226303800	Weak transcription	Esophagus	oesophagus
37	chr1:226299800-226306800	Weak transcription	Spleen	Spleen
38	chr1:226299800-226308800	Weak transcription	Gastric	stomach
39	chr1:226299800-226309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:226300000-226300600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr1:226300000-226301400	Enhancers	Primary B cells from cord blood	blood
42	chr1:226300000-226303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:226300000-226308200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:226300000-226308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:226300200-226300600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr1:226300200-226300600	Enhancers	GM12878-XiMat	blood
47	chr1:226300200-226300800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr1:226300400-226300800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:226300400-226300800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
50	chr1:226300400-226301000	Enhancers	H1 Cell Line	embryonic stem cell

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