Variant report

Variant	rs1415146
Chromosome Location	chr1:150668638-150668639
allele	A/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: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	chr1:150611643..150613854-chr1:150667499..150669234,2	K562	blood:
2	chr1:150551078..150552936-chr1:150667990..150671349,4	K562	blood:
3	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
4	chr1:150533613..150535919-chr1:150668275..150670992,2	MCF-7	breast:
5	chr1:150600620..150604710-chr1:150667156..150670884,6	K562	blood:
6	chr1:150668066..150670256-chr1:150778150..150780706,2	K562	blood:
7	chr1:150668066..150670376-chr1:150778150..150781017,2	K562	blood:
8	chr1:150551507..150553628-chr1:150668472..150670953,2	K562	blood:
9	chr1:150600649..150603708-chr1:150666872..150671304,5	K562	blood:
10	chr1:150668010..150669720-chr1:150777076..150779971,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143420	Chromatin interaction
ENSG00000143387	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10788796	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap]
rs11204728	1.00[CEU][hapmap]
rs1241574	0.83[AMR][1000 genomes]
rs1241576	0.84[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs1241580	1.00[AMR][1000 genomes]
rs6587519	1.00[CEU][hapmap]
rs6587522	1.00[CEU][hapmap]
rs6587534	1.00[CEU][hapmap]
rs6688430	1.00[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515228	1.00[CEU][hapmap]
rs7517566	0.85[YRI][hapmap]
rs7518440	1.00[CEU][hapmap]
rs7518546	1.00[CEU][hapmap]
rs7533914	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1014638	chr1:150647987-150679033	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv437158	chr1:150652202-150683512	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:150621200-150669400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150622000-150669400	Weak transcription	Esophagus	oesophagus
3	chr1:150632400-150669000	Weak transcription	Aorta	Aorta
4	chr1:150633200-150669200	Weak transcription	Left Ventricle	heart
5	chr1:150641200-150669400	Weak transcription	Gastric	stomach
6	chr1:150648800-150669400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:150648800-150669400	Weak transcription	Spleen	Spleen
8	chr1:150656600-150669400	Weak transcription	Small Intestine	intestine
9	chr1:150662800-150668800	Weak transcription	Psoas Muscle	Psoas
10	chr1:150664000-150669400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:150664000-150669400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:150665200-150669400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:150667000-150669000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:150667000-150669400	Weak transcription	Lung	lung
15	chr1:150667200-150668800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:150667400-150668800	Weak transcription	Fetal Lung	lung
17	chr1:150667400-150668800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:150667400-150669400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:150667600-150668800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:150667600-150669000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:150667600-150669400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:150667600-150670200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:150667600-150670200	Active TSS	GM12878-XiMat	blood
24	chr1:150667800-150670400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:150668000-150668800	Enhancers	Primary T cells from cord blood	blood
26	chr1:150668000-150669000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:150668000-150669000	Flanking Active TSS	HUVEC	blood vessel
28	chr1:150668000-150669200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:150668000-150669400	Weak transcription	Pancreas	Pancrea
30	chr1:150668000-150670200	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:150668000-150670200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:150668000-150670400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:150668000-150670400	Active TSS	Duodenum Mucosa	Duodenum
34	chr1:150668000-150670600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr1:150668000-150670600	Active TSS	K562	blood
36	chr1:150668200-150669000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:150668200-150669000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr1:150668200-150669000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:150668200-150669200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:150668200-150669200	Flanking Active TSS	Dnd41	blood
41	chr1:150668200-150670000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:150668200-150670000	Active TSS	NHEK	skin
43	chr1:150668200-150670200	Active TSS	Colonic Mucosa	Colon
44	chr1:150668200-150670400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:150668200-150670600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:150668400-150669000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:150668400-150670200	Active TSS	Fetal Intestine Large	intestine
48	chr1:150668400-150670200	Active TSS	Fetal Stomach	stomach
49	chr1:150668400-150670400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:150668400-150670600	Active TSS	Ovary	ovary

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