Variant report

Variant	rs59338720
Chromosome Location	chr1:78077436-78077437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

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]
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]
rs74090673	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]
rs74092325	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78047600-78085600	Weak transcription	NHLF	lung
2	chr1:78047800-78086200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:78047800-78090000	Weak transcription	NH-A	brain
4	chr1:78048000-78077800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:78048000-78097400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:78059000-78083200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:78063200-78083000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:78063600-78097600	Weak transcription	Fetal Brain Male	brain
9	chr1:78070600-78098000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:78071000-78098000	Weak transcription	Colonic Mucosa	Colon
11	chr1:78071200-78085600	Weak transcription	HUVEC	blood vessel
12	chr1:78071200-78098000	Weak transcription	Small Intestine	intestine
13	chr1:78071400-78097800	Weak transcription	Aorta	Aorta
14	chr1:78071800-78082800	Weak transcription	Osteobl	bone
15	chr1:78071800-78097800	Weak transcription	Ovary	ovary
16	chr1:78071800-78097800	Weak transcription	Pancreas	Pancrea
17	chr1:78072000-78080600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:78072000-78094600	Weak transcription	Left Ventricle	heart
19	chr1:78072000-78097600	Weak transcription	Gastric	stomach
20	chr1:78072200-78083400	Weak transcription	Thymus	Thymus
21	chr1:78072200-78086400	Weak transcription	HMEC	breast
22	chr1:78072200-78090600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:78072200-78098000	Weak transcription	Spleen	Spleen
24	chr1:78072400-78087200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:78072400-78097800	Weak transcription	Lung	lung
26	chr1:78072600-78080600	Weak transcription	HSMM	muscle
27	chr1:78072600-78086200	Weak transcription	Fetal Thymus	thymus
28	chr1:78072600-78097800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:78072800-78086400	Weak transcription	Fetal Kidney	kidney
30	chr1:78073000-78090000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:78073200-78097400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:78073600-78082200	Weak transcription	Fetal Intestine Small	intestine
33	chr1:78073600-78086800	Weak transcription	Fetal Stomach	stomach
34	chr1:78073800-78078200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:78074400-78086200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:78074600-78092000	Weak transcription	Fetal Heart	heart
37	chr1:78075000-78082200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:78075000-78083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:78075000-78085200	Weak transcription	A549	lung
40	chr1:78075000-78096000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:78075000-78097800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:78075200-78098000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:78075400-78080800	Weak transcription	NHDF-Ad	bronchial
44	chr1:78075400-78081800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:78075400-78082200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:78075400-78083000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:78075400-78085600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:78075400-78085800	Weak transcription	Liver	Liver
49	chr1:78075400-78086800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:78075400-78087000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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