Variant report

Variant	rs7517003
Chromosome Location	chr1:150282557-150282558
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150281317..150284085-chr1:150333771..150336278,2	K562	blood:
2	chr1:150280657..150283062-chr1:150292423..150294559,2	MCF-7	breast:
3	chr1:150274394..150277306-chr1:150282365..150283997,2	K562	blood:
4	chr1:150278389..150282847-chr1:150283381..150286594,4	K562	blood:
5	chr1:150272468..150277468-chr1:150279289..150286428,7	K562	blood:
6	chr1:150282311..150282860-chr3:183852491..183853429,2	NB4	blood:
7	chr1:150280886..150284746-chr1:150291835..150295516,6	MCF-7	breast:
8	chr1:150266649..150270690-chr1:150280933..150283523,3	K562	blood:
9	chr1:150281347..150282861-chr1:150283777..150286157,2	K562	blood:
10	chr1:150277809..150280750-chr1:150280887..150284512,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145191	Chromatin interaction
ENSG00000272721	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11799813	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800656	1.00[ASN][1000 genomes]
rs11801190	1.00[ASN][1000 genomes]
rs11802612	1.00[ASN][1000 genomes]
rs11803448	1.00[ASN][1000 genomes]
rs11806171	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807119	1.00[ASN][1000 genomes]
rs11809332	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723364	1.00[ASN][1000 genomes]
rs12724450	1.00[ASN][1000 genomes]
rs12729727	1.00[ASN][1000 genomes]
rs12730265	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733783	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12735903	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12736584	1.00[ASN][1000 genomes]
rs12743761	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12745672	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749958	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756583	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759551	1.00[ASN][1000 genomes]
rs28495360	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34001546	1.00[ASN][1000 genomes]
rs34233130	1.00[ASN][1000 genomes]
rs34307322	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34347495	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448981	1.00[ASN][1000 genomes]
rs34514406	1.00[ASN][1000 genomes]
rs34542152	1.00[ASN][1000 genomes]
rs34609268	1.00[ASN][1000 genomes]
rs34964511	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35094010	1.00[ASN][1000 genomes]
rs35347210	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35437473	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35762205	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35839143	1.00[ASN][1000 genomes]
rs35935423	1.00[ASN][1000 genomes]
rs4845	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56214117	1.00[ASN][1000 genomes]
rs58427317	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58853199	1.00[ASN][1000 genomes]
rs6689338	0.82[AFR][1000 genomes]
rs71515775	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622688	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622689	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622694	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622695	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622696	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622697	0.81[EUR][1000 genomes]
rs71622698	1.00[ASN][1000 genomes]
rs74124663	1.00[ASN][1000 genomes]
rs74124686	1.00[ASN][1000 genomes]
rs7535275	1.00[ASN][1000 genomes]
rs7546610	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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	164 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
3	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:150268000-150282600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:150268000-150293200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:150268200-150282600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:150268200-150282600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:150268200-150282800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:150268200-150282800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:150268200-150282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:150269000-150282800	Strong transcription	Fetal Thymus	thymus
12	chr1:150269400-150282800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:150271600-150284000	Weak transcription	Colonic Mucosa	Colon
14	chr1:150272600-150282800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:150274000-150282800	Strong transcription	Fetal Brain Female	brain
16	chr1:150274800-150282800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:150274800-150284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:150275000-150286400	Weak transcription	HepG2	liver
19	chr1:150275200-150282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:150275400-150282600	Weak transcription	Right Ventricle	heart
21	chr1:150275400-150283400	Weak transcription	Aorta	Aorta
22	chr1:150275600-150282800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:150275600-150286400	Weak transcription	Psoas Muscle	Psoas
24	chr1:150276000-150293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:150276000-150293200	Weak transcription	Dnd41	blood
26	chr1:150276200-150282800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:150276400-150282600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:150276400-150284200	Weak transcription	NH-A	brain
29	chr1:150276400-150284800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:150276400-150293200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:150276400-150293200	Weak transcription	Fetal Kidney	kidney
32	chr1:150276600-150282800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:150276600-150282800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:150277400-150282600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:150277800-150282800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:150278000-150283600	Weak transcription	Fetal Lung	lung
37	chr1:150278200-150283600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:150278800-150284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:150278800-150293400	Weak transcription	NHDF-Ad	bronchial
40	chr1:150279200-150282800	Strong transcription	Fetal Intestine Large	intestine
41	chr1:150279600-150282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:150279800-150282600	Strong transcription	Brain Anterior Caudate	brain
43	chr1:150279800-150282800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr1:150279800-150282800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:150279800-150282800	Strong transcription	A549	lung
46	chr1:150280600-150283400	Weak transcription	Small Intestine	intestine
47	chr1:150280600-150293200	Weak transcription	GM12878-XiMat	blood
48	chr1:150280800-150283800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:150280800-150283800	Weak transcription	Esophagus	oesophagus
50	chr1:150280800-150284000	Weak transcription	Duodenum Mucosa	Duodenum

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