Variant report

Variant	rs74090673
Chromosome Location	chr1:78065367-78065368
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78059208..78062136-chr1:78063815..78066151,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs35178440	1.00[EUR][1000 genomes]
rs55872024	1.00[EUR][1000 genomes]
rs56010524	1.00[EUR][1000 genomes]
rs58120905	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59338720	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59883033	1.00[EUR][1000 genomes]
rs60000721	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60658102	1.00[EUR][1000 genomes]
rs61553400	1.00[EUR][1000 genomes]
rs61655329	1.00[EUR][1000 genomes]
rs74090646	1.00[EUR][1000 genomes]
rs74090649	1.00[EUR][1000 genomes]
rs74090653	1.00[EUR][1000 genomes]
rs74090666	1.00[AFR][1000 genomes]
rs74090669	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74090678	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74090686	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74092304	1.00[EUR][1000 genomes]
rs74092305	1.00[EUR][1000 genomes]
rs74092316	1.00[EUR][1000 genomes]
rs74092323	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78024800-78071000	Weak transcription	Gastric	stomach
2	chr1:78032600-78070800	Weak transcription	Aorta	Aorta
3	chr1:78032800-78070600	Weak transcription	Small Intestine	intestine
4	chr1:78033200-78072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:78033400-78069600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:78033600-78070800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:78038600-78071000	Weak transcription	Pancreas	Pancrea
8	chr1:78039000-78070800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:78042000-78070800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:78042000-78074600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:78042200-78073800	Weak transcription	Fetal Brain Female	brain
12	chr1:78043000-78070200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:78044200-78069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:78047000-78070800	Weak transcription	Lung	lung
15	chr1:78047000-78071200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:78047600-78069000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:78047600-78070800	Weak transcription	HSMMtube	muscle
18	chr1:78047600-78071000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:78047600-78071600	Weak transcription	Thymus	Thymus
20	chr1:78047600-78072400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:78047600-78072600	Weak transcription	Fetal Kidney	kidney
22	chr1:78047600-78074600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:78047600-78074800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:78047600-78085600	Weak transcription	NHLF	lung
25	chr1:78047800-78070800	Weak transcription	Left Ventricle	heart
26	chr1:78047800-78070800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:78047800-78071000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:78047800-78074200	Weak transcription	Hela-S3	cervix
29	chr1:78047800-78074800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:78047800-78086200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:78047800-78090000	Weak transcription	NH-A	brain
32	chr1:78048000-78074600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:78048000-78077800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:78048000-78097400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:78048200-78070600	Weak transcription	HMEC	breast
36	chr1:78048600-78070800	Weak transcription	Fetal Stomach	stomach
37	chr1:78048800-78070800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:78048800-78071000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:78048800-78071000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:78049000-78072400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:78049400-78068800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:78050000-78075000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:78050200-78070400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:78051600-78070400	Weak transcription	Brain Angular Gyrus	brain
45	chr1:78053600-78070800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:78054000-78074800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:78055400-78070800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:78056600-78074000	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:78057000-78070600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:78057200-78068800	Weak transcription	Osteobl	bone

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