Variant report

Variant	rs360065
Chromosome Location	chr1:226105065-226105066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226068819..226071766-chr1:226104390..226106475,3	K562	blood:
2	chr1:226068854..226071766-chr1:226104975..226107758,2	K562	blood:
3	chr1:226103278..226105384-chr1:226143217..226145668,2	K562	blood:
4	chr1:226086485..226088841-chr1:226103222..226105310,2	K562	blood:

Variant related genes	Relation type
ENSG00000196187	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1223234	0.90[AMR][1000 genomes]
rs184853	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs360066	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs360085	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs717759	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv3335650	chr1:226074720-226125458	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv3369235	chr1:226075748-226127738	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv468216	chr1:226078915-226135132	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv549267	chr1:226078915-226135132	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv535314	chr1:226087226-226128261	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226087000-226107200	Weak transcription	Psoas Muscle	Psoas
2	chr1:226098800-226105200	Weak transcription	K562	blood
3	chr1:226099200-226105600	Weak transcription	Aorta	Aorta
4	chr1:226099200-226107200	Weak transcription	HUVEC	blood vessel
5	chr1:226099200-226107600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:226099200-226109000	Weak transcription	Colonic Mucosa	Colon
7	chr1:226099400-226105200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:226099400-226106800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:226099400-226107200	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:226099400-226107400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:226099400-226109800	Weak transcription	Stomach Mucosa	stomach
12	chr1:226099600-226105200	Weak transcription	A549	lung
13	chr1:226099600-226105800	Weak transcription	HepG2	liver
14	chr1:226099600-226106800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:226099600-226107200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:226099600-226107200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:226099600-226107400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:226099600-226107400	Strong transcription	Fetal Stomach	stomach
19	chr1:226099800-226106000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:226099800-226107200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:226099800-226107400	Weak transcription	Right Atrium	heart
22	chr1:226099800-226107600	Weak transcription	Fetal Heart	heart
23	chr1:226099800-226107800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:226099800-226108400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:226100000-226105200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:226100200-226107200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:226100200-226107400	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:226100200-226107800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:226100400-226106200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:226100400-226110400	Weak transcription	Small Intestine	intestine
31	chr1:226100600-226106000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:226101000-226107200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:226101400-226106200	Strong transcription	Ovary	ovary
34	chr1:226101400-226109000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:226101600-226106800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:226101600-226107200	Strong transcription	Left Ventricle	heart
37	chr1:226101600-226110400	Strong transcription	Fetal Intestine Small	intestine
38	chr1:226101800-226107600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:226102000-226105400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:226102200-226105400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:226102200-226106200	Enhancers	Fetal Brain Male	brain
42	chr1:226102200-226107200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:226102200-226107200	Strong transcription	Primary T cells from cord blood	blood
44	chr1:226102400-226105800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:226102400-226106600	Weak transcription	Esophagus	oesophagus
46	chr1:226102400-226107400	Strong transcription	Liver	Liver
47	chr1:226102600-226107200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:226102800-226105800	Enhancers	HMEC	breast
49	chr1:226102800-226106200	Strong transcription	Primary B cells from cord blood	blood
50	chr1:226102800-226106200	Strong transcription	Right Ventricle	heart

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