Variant report

Variant	rs57945244
Chromosome Location	chr6:144632447-144632448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55842866	1.00[AMR][1000 genomes]
rs57632768	1.00[AMR][1000 genomes]
rs58244219	1.00[AMR][1000 genomes]
rs58476463	1.00[AMR][1000 genomes]
rs58595212	1.00[AMR][1000 genomes]
rs60593456	1.00[AMR][1000 genomes]
rs60800156	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61128349	1.00[AMR][1000 genomes]
rs61224948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780530	1.00[AMR][1000 genomes]
rs73780542	1.00[AMR][1000 genomes]
rs73780543	1.00[AMR][1000 genomes]
rs73780545	1.00[AMR][1000 genomes]
rs73780546	1.00[AMR][1000 genomes]
rs7766619	1.00[AMR][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	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3324488	chr6:144630309-144633007	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:144616400-144648000	Weak transcription	NHEK	skin
3	chr6:144617200-144636400	Weak transcription	A549	lung
4	chr6:144617400-144632800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:144619200-144634600	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:144619800-144634600	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:144622400-144637000	Genic enhancers	HepG2	liver
8	chr6:144624200-144641400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:144624200-144641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:144624400-144648000	Weak transcription	HMEC	breast
11	chr6:144625800-144632600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:144627000-144634600	Weak transcription	Small Intestine	intestine
13	chr6:144627400-144634600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:144627400-144641800	Weak transcription	Thymus	Thymus
15	chr6:144627600-144634200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:144627600-144634200	Weak transcription	Right Atrium	heart
17	chr6:144627600-144634600	Weak transcription	Aorta	Aorta
18	chr6:144627600-144634600	Weak transcription	Esophagus	oesophagus
19	chr6:144627600-144634600	Weak transcription	Spleen	Spleen
20	chr6:144627600-144636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:144627600-144643400	Weak transcription	NH-A	brain
22	chr6:144627600-144645800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:144627800-144634600	Weak transcription	Fetal Thymus	thymus
24	chr6:144629000-144632800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:144629000-144633000	Strong transcription	HSMM	muscle
26	chr6:144629200-144634400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:144629200-144634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:144629200-144635200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:144629400-144632600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:144629400-144632600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:144629400-144633000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:144629400-144641800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:144630200-144648400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:144630400-144634000	Weak transcription	Right Ventricle	heart
35	chr6:144630400-144634600	Weak transcription	Gastric	stomach
36	chr6:144630600-144632600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:144630600-144634200	Weak transcription	NHDF-Ad	bronchial
38	chr6:144630600-144648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:144630800-144634200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:144630800-144634600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:144630800-144634600	Weak transcription	Placenta	Placenta
42	chr6:144630800-144634800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:144631000-144632600	Weak transcription	Dnd41	blood
44	chr6:144631000-144632600	Weak transcription	Hela-S3	cervix
45	chr6:144631000-144632800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:144631000-144633600	Weak transcription	Liver	Liver
47	chr6:144631000-144634200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:144631000-144634200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:144631000-144634200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:144631000-144634200	Weak transcription	Left Ventricle	heart

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