Variant report

Variant	rs9997354
Chromosome Location	chr4:152093036-152093037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152034070..152037027-chr4:152091761..152094760,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10005764	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10016856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10028324	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11099784	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027541	1.00[EUR][1000 genomes]
rs17027575	1.00[EUR][1000 genomes]
rs28399915	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28401367	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28432996	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28493533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28566074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28594255	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28658039	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28791569	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28836884	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58001315	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60001201	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60661732	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812606	1.00[AMR][1000 genomes]
rs6820298	1.00[EUR][1000 genomes]
rs6856037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967593	1.00[EUR][1000 genomes]
rs73859998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73860000	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73861187	1.00[EUR][1000 genomes]
rs7658238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7659047	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917939	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9918061	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9991362	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
9	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking 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 target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152027200-152095600	Weak transcription	Pancreas	Pancrea
2	chr4:152043400-152095800	Weak transcription	Placenta	Placenta
3	chr4:152055000-152105800	Weak transcription	Small Intestine	intestine
4	chr4:152066000-152095200	Weak transcription	Esophagus	oesophagus
5	chr4:152066200-152095800	Weak transcription	Gastric	stomach
6	chr4:152066400-152095800	Weak transcription	Aorta	Aorta
7	chr4:152070800-152093800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:152079400-152095800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:152082400-152095600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:152084000-152093400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:152084400-152095600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:152084400-152095800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:152085400-152095400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:152087600-152095400	Weak transcription	Right Atrium	heart
15	chr4:152088000-152096200	Weak transcription	A549	lung
16	chr4:152088000-152101600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:152088200-152093400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:152088200-152093400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:152088200-152095800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:152088200-152114600	Weak transcription	Psoas Muscle	Psoas
21	chr4:152089200-152094000	Enhancers	Stomach Smooth Muscle	stomach
22	chr4:152089200-152095400	Weak transcription	Lung	lung
23	chr4:152089200-152097800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr4:152089200-152098000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:152089400-152095200	Weak transcription	Left Ventricle	heart
26	chr4:152089600-152093800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:152089600-152094800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:152089800-152095600	Enhancers	Colon Smooth Muscle	Colon
29	chr4:152090000-152093400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:152090000-152094000	Enhancers	Brain Cingulate Gyrus	brain
31	chr4:152090000-152095200	Enhancers	Rectal Smooth Muscle	rectum
32	chr4:152090200-152095200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:152090200-152096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:152090400-152095200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:152090400-152095200	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:152090400-152105800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:152090600-152093600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:152090600-152097600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:152090800-152093400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:152090800-152095400	Weak transcription	Right Ventricle	heart
41	chr4:152090800-152095800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:152090800-152096200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:152091000-152093400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:152091000-152093800	Weak transcription	Liver	Liver
45	chr4:152091000-152094600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:152091000-152095000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:152091000-152095600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:152091200-152093200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:152091200-152093400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:152091200-152093400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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