Variant report

Variant	rs45446504
Chromosome Location	chr1:171305333-171305334
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12065835	1.00[AMR][1000 genomes]
rs12076180	1.00[AMR][1000 genomes]
rs61342270	1.00[AMR][1000 genomes]
rs74122842	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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1002423	chr1:171294384-171376936	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171284000-171312200	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:171284200-171307400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:171284200-171313600	Weak transcription	Right Ventricle	heart
4	chr1:171284200-171313800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:171286800-171309200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:171288400-171313000	Weak transcription	Gastric	stomach
7	chr1:171288600-171312400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:171289400-171309600	Weak transcription	Primary B cells from cord blood	blood
9	chr1:171289400-171313400	Weak transcription	Fetal Lung	lung
10	chr1:171289600-171309000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:171289600-171309000	Weak transcription	Pancreas	Pancrea
12	chr1:171289600-171313000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:171289800-171309000	Weak transcription	Spleen	Spleen
14	chr1:171289800-171309200	Weak transcription	Left Ventricle	heart
15	chr1:171289800-171312600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:171289800-171313000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:171290000-171308200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:171290000-171309200	Weak transcription	Ovary	ovary
19	chr1:171299200-171312400	Weak transcription	Fetal Intestine Small	intestine
20	chr1:171299800-171314200	Weak transcription	Aorta	Aorta
21	chr1:171302400-171313200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:171302800-171313000	Weak transcription	Fetal Intestine Large	intestine
23	chr1:171304000-171305800	Enhancers	Liver	Liver
24	chr1:171304800-171305400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:171304800-171305600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:171305000-171305600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:171305200-171305600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr1:171305200-171305600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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