Variant report

Variant	rs34665499
Chromosome Location	chr1:153892136-153892137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153878654..153880951-chr1:153891156..153893030,2	K562	blood:
2	chr1:153642898..153644985-chr1:153891363..153894144,2	K562	blood:
3	chr1:153890509..153893105-chr1:153967139..153969855,2	K562	blood:
4	chr1:153858652..153861331-chr1:153892093..153894371,2	MCF-7	breast:
5	chr1:153890756..153897034-chr1:153961597..153964863,14	K562	blood:
6	chr1:149820075..149822620-chr1:153892093..153893716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261716	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000231416	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143621	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11264522	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12023578	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12032520	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033532	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039936	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043354	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12044455	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045838	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12726350	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2072704	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2297895	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33998934	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34579266	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35170146	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4309017	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4323749	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61804837	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61804838	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61804839	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61805526	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6427334	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7527406	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9427246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
6	nsv872450	chr1:153889042-153937513	Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153837000-153893000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:153846200-153894200	Weak transcription	Esophagus	oesophagus
3	chr1:153853800-153892200	Weak transcription	Pancreas	Pancrea
4	chr1:153853800-153893400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:153854000-153892600	Weak transcription	Colonic Mucosa	Colon
6	chr1:153854400-153892400	Weak transcription	Aorta	Aorta
7	chr1:153854600-153892200	Weak transcription	HSMM	muscle
8	chr1:153855000-153892400	Weak transcription	NHLF	lung
9	chr1:153855000-153892800	Weak transcription	NH-A	brain
10	chr1:153855600-153892200	Weak transcription	Fetal Kidney	kidney
11	chr1:153861200-153892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:153866400-153894000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:153866800-153892200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:153866800-153892200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:153870000-153892400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:153870800-153892400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:153872000-153892400	Weak transcription	Placenta	Placenta
18	chr1:153872000-153892400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:153872200-153892200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:153872200-153892400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:153874000-153892200	Weak transcription	Brain Substantia Nigra	brain
22	chr1:153874600-153892400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:153876600-153892400	Weak transcription	Spleen	Spleen
24	chr1:153877400-153892200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:153877800-153892400	Weak transcription	NHDF-Ad	bronchial
26	chr1:153878000-153892400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:153878200-153892400	Weak transcription	HUVEC	blood vessel
28	chr1:153878600-153894000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:153879600-153892600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:153881600-153892200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:153881600-153892400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:153886800-153892200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:153887200-153892200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:153887400-153892200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:153887400-153893000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:153887600-153892400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:153887600-153892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:153887600-153892400	Weak transcription	Gastric	stomach
39	chr1:153887600-153892400	Weak transcription	Left Ventricle	heart
40	chr1:153887800-153892400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:153887800-153892600	Weak transcription	Ovary	ovary
42	chr1:153888000-153892600	Weak transcription	Fetal Stomach	stomach
43	chr1:153888200-153892200	Weak transcription	Lung	lung
44	chr1:153888200-153892800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:153888400-153892200	Weak transcription	Osteobl	bone
46	chr1:153888600-153892800	Weak transcription	Fetal Intestine Small	intestine
47	chr1:153889000-153892200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:153889000-153892400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:153889000-153892600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:153889000-153892600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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