Variant report

Variant	rs2744595
Chromosome Location	chr6:24530337-24530338
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr6:24530220-24530714	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr6:24530111-24530816	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr6:24530129-24530697	SK-N-SH	brain:	n/a	n/a
4	TEAD4	chr6:24530095-24530740	SK-N-SH	brain:	n/a	n/a
5	EP300	chr6:24530200-24530675	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr6:24530154-24530628	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr6:24530181-24530844	SK-N-SH	brain:	n/a	n/a
8	FOSL2	chr6:24530187-24530688	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr6:24530107-24530904	SK-N-SH	brain:	n/a	chr6:24530501-24530512
10	PBX3	chr6:24530211-24530713	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr6:24530118-24530788	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr6:24530269-24530612	SH-SY5Y	brain:	n/a	chr6:24530501-24530512
13	GATA3	chr6:24530090-24530961	SK-N-SH	brain:	n/a	chr6:24530501-24530512
14	GATA2	chr6:24530267-24530755	SH-SY5Y	brain:	n/a	chr6:24530501-24530512
15	ZBTB33	chr6:24530249-24530543	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ALDH5A1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2247845	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2744593	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2744594	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2760186	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2817232	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2817233	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs807519	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9393563	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34020	chr6:24481299-24606036	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24496000-24534200	Weak transcription	Gastric	stomach
2	chr6:24496000-24538000	Weak transcription	Esophagus	oesophagus
3	chr6:24496200-24534200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:24496200-24535000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:24496200-24536200	Weak transcription	Psoas Muscle	Psoas
6	chr6:24496200-24583000	Weak transcription	Hela-S3	cervix
7	chr6:24496400-24532200	Weak transcription	Brain Germinal Matrix	brain
8	chr6:24496800-24532400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:24504400-24534200	Weak transcription	Pancreas	Pancrea
10	chr6:24505400-24534000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:24505800-24530800	Weak transcription	Right Ventricle	heart
12	chr6:24505800-24534000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:24505800-24534000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:24507400-24531400	Weak transcription	Fetal Lung	lung
15	chr6:24507600-24532400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:24507600-24532400	Weak transcription	Fetal Brain Female	brain
17	chr6:24507800-24532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:24507800-24536800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:24507800-24539200	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:24509400-24545800	Weak transcription	Small Intestine	intestine
21	chr6:24512400-24533000	Weak transcription	Brain Substantia Nigra	brain
22	chr6:24515000-24532200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:24516000-24530800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:24516000-24531000	Weak transcription	Brain Anterior Caudate	brain
25	chr6:24516000-24534200	Weak transcription	Brain Angular Gyrus	brain
26	chr6:24516200-24532400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:24517400-24532600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:24517600-24532200	Weak transcription	Left Ventricle	heart
29	chr6:24518200-24530800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:24518600-24531600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:24518800-24533000	Weak transcription	Spleen	Spleen
32	chr6:24519000-24532200	Weak transcription	Ovary	ovary
33	chr6:24519200-24531800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:24519400-24530800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:24521400-24532800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:24523000-24533000	Weak transcription	Fetal Kidney	kidney
37	chr6:24523000-24534200	Weak transcription	Lung	lung
38	chr6:24523000-24537000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:24523200-24532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:24523200-24532600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:24523200-24534200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:24523200-24534200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:24523200-24534200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:24523400-24530800	Weak transcription	Aorta	Aorta
45	chr6:24523600-24531000	Weak transcription	Adipose Nuclei	Adipose
46	chr6:24523600-24536800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:24523800-24530400	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:24524200-24530600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:24524800-24530600	Weak transcription	Dnd41	blood
50	chr6:24525200-24530800	Weak transcription	Fetal Intestine Large	intestine

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