Variant report

Variant	rs16830019
Chromosome Location	chr2:152267359-152267360
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152144813..152149803-chr2:152261382..152268379,11	K562	blood:
2	chr2:152262551..152270893-chr2:152273971..152280003,13	K562	blood:
3	chr2:152145011..152148288-chr2:152265460..152267609,4	MCF-7	breast:
4	chr2:152267122..152269845-chr2:152289424..152290955,2	K562	blood:
5	chr2:152116678..152120470-chr2:152265032..152268454,8	MCF-7	breast:
6	chr2:152116022..152119511-chr2:152263980..152267786,5	K562	blood:
7	chr2:152143136..152144934-chr2:152266709..152268489,3	K562	blood:
8	chr2:152116994..152118893-chr2:152266218..152268136,2	MCF-7	breast:
9	chr2:152144798..152147073-chr2:152265350..152268359,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000080345	Chromatin interaction
ENSG00000184898	Chromatin interaction
ENSG00000123609	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10497084	0.82[JPT][hapmap]
rs11896481	0.83[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16830036	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16830047	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16830059	0.83[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs16830061	0.83[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs16830067	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16830086	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16830090	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs16830096	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16830159	0.86[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16830228	0.83[JPT][hapmap]
rs1993206	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3732308	0.88[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4468813	0.86[ASN][1000 genomes]
rs4491723	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4494741	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4664057	0.82[JPT][hapmap]
rs4664058	0.83[JPT][hapmap]
rs55654831	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55900984	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56898485	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62169373	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62169374	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62169378	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169380	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62169382	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62169384	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62169385	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62169386	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6726640	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6733645	0.86[ASN][1000 genomes]
rs6742953	0.86[ASN][1000 genomes]
rs72860229	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72860230	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72860235	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72860236	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7422009	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7593710	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598855	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 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	chr2:152264800-152268000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:152265000-152268600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:152265400-152267800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr2:152265600-152268200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:152265800-152267400	Active TSS	Stomach Smooth Muscle	stomach
6	chr2:152265800-152267600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:152266000-152267400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:152266000-152267400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:152266000-152267400	Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr2:152266000-152267400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:152266000-152267400	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr2:152266000-152267400	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr2:152266000-152267400	Active TSS	Brain Anterior Caudate	brain
14	chr2:152266000-152267400	Active TSS	Brain Hippocampus Middle	brain
15	chr2:152266000-152267400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:152266000-152267400	Active TSS	Brain Substantia Nigra	brain
17	chr2:152266000-152267400	Active TSS	Duodenum Mucosa	Duodenum
18	chr2:152266000-152267400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:152266000-152267400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr2:152266000-152267400	Active TSS	Fetal Heart	heart
21	chr2:152266000-152267400	Active TSS	Rectal Smooth Muscle	rectum
22	chr2:152266000-152267400	Active TSS	HUVEC	blood vessel
23	chr2:152266000-152267600	Active TSS	Brain Cingulate Gyrus	brain
24	chr2:152266000-152267600	Active TSS	Colonic Mucosa	Colon
25	chr2:152266000-152267600	Active TSS	Fetal Intestine Small	intestine
26	chr2:152266000-152267600	Active TSS	Fetal Lung	lung
27	chr2:152266000-152267600	Active TSS	Psoas Muscle	Psoas
28	chr2:152266000-152267600	Active TSS	Right Ventricle	heart
29	chr2:152266000-152267600	Active TSS	Thymus	Thymus
30	chr2:152266000-152267600	Active TSS	HSMMtube	muscle
31	chr2:152266000-152267600	Active TSS	NHEK	skin
32	chr2:152266000-152267800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:152266000-152267800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:152266000-152267800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:152266000-152267800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:152266000-152267800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr2:152266000-152267800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:152266000-152267800	Active TSS	Brain Angular Gyrus	brain
39	chr2:152266000-152267800	Active TSS	Brain Germinal Matrix	brain
40	chr2:152266000-152267800	Active TSS	Fetal Kidney	kidney
41	chr2:152266000-152267800	Active TSS	Fetal Stomach	stomach
42	chr2:152266000-152267800	Active TSS	Hela-S3	cervix
43	chr2:152266000-152267800	Active TSS	NHDF-Ad	bronchial
44	chr2:152266000-152268000	Active TSS	H1 Cell Line	embryonic stem cell
45	chr2:152266000-152268000	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr2:152266000-152268000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:152266000-152268000	Active TSS	HMEC	breast
48	chr2:152266000-152268000	Active TSS	HSMM	muscle
49	chr2:152266000-152268000	Active TSS	NHLF	lung
50	chr2:152266000-152268200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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