Variant report

Variant	rs11934646
Chromosome Location	chr4:148572050-148572051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17023736	1.00[AMR][1000 genomes]
rs17023827	1.00[AMR][1000 genomes]
rs2036499	1.00[AMR][1000 genomes]
rs2036502	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2654947	0.82[AFR][1000 genomes]
rs2718451	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6535551	1.00[AMR][1000 genomes]
rs6848211	1.00[AMR][1000 genomes]
rs6854158	1.00[AMR][1000 genomes]
rs7663257	1.00[AMR][1000 genomes]
rs7699281	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	chr4:148542400-148575000	Weak transcription	Small Intestine	intestine
3	chr4:148542400-148576600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:148548400-148599800	Weak transcription	Gastric	stomach
5	chr4:148548600-148604400	Weak transcription	Esophagus	oesophagus
6	chr4:148549000-148576400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:148549000-148599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:148551400-148603600	Weak transcription	Hela-S3	cervix
9	chr4:148554600-148604600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:148556000-148574800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:148556000-148581000	Weak transcription	Brain Angular Gyrus	brain
12	chr4:148556000-148603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:148556200-148575000	Weak transcription	Ovary	ovary
14	chr4:148556200-148576200	Weak transcription	Aorta	Aorta
15	chr4:148556400-148599600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:148556600-148595200	Weak transcription	NHLF	lung
17	chr4:148557400-148603800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:148557600-148594000	Weak transcription	NHEK	skin
19	chr4:148557800-148603800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:148558000-148578800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:148558200-148579000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:148558200-148603800	Weak transcription	A549	lung
23	chr4:148558400-148576800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:148558400-148603800	Weak transcription	HUVEC	blood vessel
25	chr4:148559400-148575000	Weak transcription	NH-A	brain
26	chr4:148559400-148599200	Weak transcription	HMEC	breast
27	chr4:148559800-148574200	Weak transcription	Adipose Nuclei	Adipose
28	chr4:148559800-148575400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:148559800-148575400	Weak transcription	Fetal Brain Female	brain
30	chr4:148560600-148576400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:148561000-148575000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:148561000-148575000	Weak transcription	HSMMtube	muscle
33	chr4:148561000-148577000	Weak transcription	HSMM	muscle
34	chr4:148561200-148596200	Weak transcription	NHDF-Ad	bronchial
35	chr4:148562400-148581000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:148562800-148575000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:148562800-148575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:148562800-148585000	Weak transcription	Fetal Brain Male	brain
39	chr4:148562800-148603800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:148562800-148604200	Weak transcription	Right Ventricle	heart
41	chr4:148563200-148578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:148563400-148574200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:148563600-148577400	Weak transcription	Lung	lung
44	chr4:148563600-148604400	Weak transcription	Pancreas	Pancrea
45	chr4:148563800-148599800	Weak transcription	Spleen	Spleen
46	chr4:148564000-148576600	Weak transcription	Brain Anterior Caudate	brain
47	chr4:148564200-148575000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:148564400-148576400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:148565000-148602200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:148565200-148576400	Weak transcription	Fetal Intestine Small	intestine

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