Variant report

Variant	rs505175
Chromosome Location	chr1:46017208-46017209
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45476252..45479466-chr1:46015891..46017851,3	K562	blood:
2	chr1:46014904..46019071-chr1:46034504..46037164,4	K562	blood:
3	chr1:46012797..46020877-chr1:46047985..46055272,23	K562	blood:
4	chr1:45985569..45992282-chr1:46014173..46025125,38	MCF-7	breast:
5	chr1:45195042..45198446-chr1:46014587..46018125,4	K562	blood:
6	chr1:46015193..46018509-chr1:46048657..46051369,3	MCF-7	breast:
7	chr1:45982342..45989534-chr1:46006947..46020678,57	K562	blood:
8	chr1:45993856..45997631-chr1:46016442..46019336,3	K562	blood:
9	chr1:45974303..45976315-chr1:46016860..46019727,2	K562	blood:
10	chr1:45974939..45977846-chr1:46015282..46017928,2	MCF-7	breast:
11	chr1:45985342..45989391-chr1:46011113..46019467,18	MCF-7	breast:
12	chr1:45976870..45989534-chr1:46007918..46019226,54	K562	blood:
13	chr1:46012228..46018632-chr1:46046407..46053601,17	K562	blood:
14	chr1:45271619..45273419-chr1:46014827..46017277,2	K562	blood:
15	chr1:46016158..46018280-chr1:46030299..46033160,3	K562	blood:
16	chr1:46014904..46020261-chr1:46034308..46041374,10	K562	blood:
17	chr1:45964150..45967582-chr1:46014583..46018871,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000126088	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000234379	Chromatin interaction
ENSG00000188396	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11211127	1.00[AMR][1000 genomes]
rs11211144	1.00[AMR][1000 genomes]
rs11211148	1.00[AMR][1000 genomes]
rs11211150	0.83[MKK][hapmap]
rs11211153	1.00[AMR][1000 genomes]
rs11211154	1.00[AMR][1000 genomes]
rs11211155	1.00[AMR][1000 genomes]
rs11211156	1.00[AMR][1000 genomes]
rs11211167	0.92[MKK][hapmap];1.00[AMR][1000 genomes]
rs12057167	1.00[AMR][1000 genomes]
rs12060056	1.00[AMR][1000 genomes]
rs12061890	1.00[AMR][1000 genomes]
rs12062361	1.00[AMR][1000 genomes]
rs12063380	1.00[AMR][1000 genomes]
rs12064908	1.00[AMR][1000 genomes]
rs12067882	1.00[AMR][1000 genomes]
rs12070146	1.00[AMR][1000 genomes]
rs12070177	1.00[AMR][1000 genomes]
rs12073045	1.00[AMR][1000 genomes]
rs12073047	1.00[AMR][1000 genomes]
rs12073132	1.00[AMR][1000 genomes]
rs12077112	1.00[AMR][1000 genomes]
rs12080482	1.00[AMR][1000 genomes]
rs12081121	1.00[AMR][1000 genomes]
rs12082672	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12085372	1.00[AMR][1000 genomes]
rs12086880	1.00[AMR][1000 genomes]
rs12088810	1.00[AMR][1000 genomes]
rs12091335	1.00[AMR][1000 genomes]
rs12091360	1.00[AMR][1000 genomes]
rs12093444	1.00[AMR][1000 genomes]
rs12094011	1.00[AMR][1000 genomes]
rs12097914	1.00[AMR][1000 genomes]
rs16832540	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16832550	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16832553	1.00[AMR][1000 genomes]
rs16832557	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16832559	1.00[MEX][hapmap]
rs1691225	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1691226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1691227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1762087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2782489	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28532613	1.00[AMR][1000 genomes]
rs28548585	1.00[AMR][1000 genomes]
rs28576912	1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[AMR][1000 genomes]
rs28607905	1.00[AMR][1000 genomes]
rs35067820	1.00[AMR][1000 genomes]
rs35808563	1.00[AMR][1000 genomes]
rs486346	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs506094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525706	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs622296	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635446	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs665014	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs668289	1.00[ASW][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs669417	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6699702	1.00[MEX][hapmap]
rs680267	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7550744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
4	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46015600-46017400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:46015800-46017400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:46015800-46017400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:46016000-46017400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:46016000-46017400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:46016000-46017400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:46016000-46017400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:46016000-46017400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:46016000-46017400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:46016000-46017400	Active TSS	Aorta	Aorta
11	chr1:46016000-46017400	Active TSS	Colonic Mucosa	Colon
12	chr1:46016000-46017400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:46016000-46017400	Active TSS	Ovary	ovary
14	chr1:46016000-46017400	Active TSS	Psoas Muscle	Psoas
15	chr1:46016000-46017400	Active TSS	NH-A	brain
16	chr1:46016000-46017400	Active TSS	NHDF-Ad	bronchial
17	chr1:46016000-46017600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:46016000-46017600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr1:46016000-46017600	Active TSS	Brain Angular Gyrus	brain
20	chr1:46016000-46017600	Active TSS	Brain Substantia Nigra	brain
21	chr1:46016000-46017600	Active TSS	Esophagus	oesophagus
22	chr1:46016000-46017600	Active TSS	Fetal Kidney	kidney
23	chr1:46016000-46017600	Active TSS	Left Ventricle	heart
24	chr1:46016000-46017600	Active TSS	Right Atrium	heart
25	chr1:46016000-46017600	Active TSS	Right Ventricle	heart
26	chr1:46016000-46017600	Active TSS	A549	lung
27	chr1:46016000-46017600	Active TSS	HSMM	muscle
28	chr1:46016000-46017600	Active TSS	HSMMtube	muscle
29	chr1:46016000-46017800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:46016000-46017800	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:46016000-46017800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr1:46016000-46018000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:46016000-46018000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:46016000-46018000	Active TSS	Pancreas	Pancrea
35	chr1:46016000-46018200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:46016000-46018200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:46016200-46017400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr1:46016200-46017400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:46016200-46017400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:46016200-46017400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:46016200-46017400	Active TSS	Small Intestine	intestine
42	chr1:46016200-46017400	Active TSS	Thymus	Thymus
43	chr1:46016200-46017600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:46016200-46017600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:46016200-46017600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:46016200-46017600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:46016200-46017600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:46016200-46017600	Active TSS	Fetal Intestine Small	intestine
49	chr1:46016200-46017800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:46016200-46017800	Active TSS	Lung	lung

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