Variant report

Variant	rs9992593
Chromosome Location	chr4:148576265-148576266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10010511	1.00[AMR][1000 genomes]
rs10015122	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305935	1.00[AMR][1000 genomes]
rs10305938	1.00[AMR][1000 genomes]
rs17023637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023724	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17023733	1.00[AMR][1000 genomes]
rs17023744	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17023757	1.00[AMR][1000 genomes]
rs17023761	1.00[AMR][1000 genomes]
rs17023763	1.00[AMR][1000 genomes]
rs17023771	1.00[AMR][1000 genomes]
rs28412528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28416759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28476507	1.00[AMR][1000 genomes]
rs28536542	1.00[AMR][1000 genomes]
rs28559891	1.00[AMR][1000 genomes]
rs28582558	1.00[AMR][1000 genomes]
rs28706741	1.00[AMR][1000 genomes]
rs5339	1.00[AMR][1000 genomes]
rs5340	1.00[AMR][1000 genomes]
rs9991057	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases
4	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1019205	chr4:148524852-148576265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking 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	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148539400-148576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:148542400-148576600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:148548400-148599800	Weak transcription	Gastric	stomach
4	chr4:148548600-148604400	Weak transcription	Esophagus	oesophagus
5	chr4:148549000-148576400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:148549000-148599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:148551400-148603600	Weak transcription	Hela-S3	cervix
8	chr4:148554600-148604600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:148556000-148581000	Weak transcription	Brain Angular Gyrus	brain
10	chr4:148556000-148603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:148556400-148599600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:148556600-148595200	Weak transcription	NHLF	lung
13	chr4:148557400-148603800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:148557600-148594000	Weak transcription	NHEK	skin
15	chr4:148557800-148603800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:148558000-148578800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:148558200-148579000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:148558200-148603800	Weak transcription	A549	lung
19	chr4:148558400-148576800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:148558400-148603800	Weak transcription	HUVEC	blood vessel
21	chr4:148559400-148599200	Weak transcription	HMEC	breast
22	chr4:148560600-148576400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:148561000-148577000	Weak transcription	HSMM	muscle
24	chr4:148561200-148596200	Weak transcription	NHDF-Ad	bronchial
25	chr4:148562400-148581000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:148562800-148585000	Weak transcription	Fetal Brain Male	brain
27	chr4:148562800-148603800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:148562800-148604200	Weak transcription	Right Ventricle	heart
29	chr4:148563200-148578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:148563600-148577400	Weak transcription	Lung	lung
31	chr4:148563600-148604400	Weak transcription	Pancreas	Pancrea
32	chr4:148563800-148599800	Weak transcription	Spleen	Spleen
33	chr4:148564000-148576600	Weak transcription	Brain Anterior Caudate	brain
34	chr4:148564400-148576400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:148565000-148602200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:148565200-148576400	Weak transcription	Fetal Intestine Small	intestine
37	chr4:148566000-148577000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:148566200-148576600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:148567400-148576600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:148568400-148582400	Weak transcription	Stomach Mucosa	stomach
41	chr4:148568400-148603800	Weak transcription	Fetal Kidney	kidney
42	chr4:148568600-148578600	Weak transcription	Osteobl	bone
43	chr4:148568800-148584000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:148568800-148600400	Weak transcription	Psoas Muscle	Psoas
45	chr4:148569000-148580000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr4:148569400-148604000	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:148570000-148576600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:148570000-148577400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:148570000-148578800	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:148570200-148576600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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