Variant report

Variant	rs73040999
Chromosome Location	chr1:180782577-180782578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180774509..180777910-chr1:180782465..180785620,3	K562	blood:
2	chr1:180781632..180784548-chr1:180790572..180792868,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57135776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700142	1.00[AMR][1000 genomes]
rs73034720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034836	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034840	1.00[AMR][1000 genomes]
rs73044555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047756	1.00[AMR][1000 genomes]
rs73051243	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180741600-180784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:180755000-180783800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:180755400-180803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:180755400-180820400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:180756800-180810200	Weak transcription	Fetal Brain Male	brain
7	chr1:180758000-180804000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:180759000-180794800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:180761200-180789200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:180761400-180784400	Weak transcription	NHEK	skin
11	chr1:180761400-180794000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:180761400-180796400	Weak transcription	HMEC	breast
13	chr1:180761400-180804600	Weak transcription	Aorta	Aorta
14	chr1:180762000-180785200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:180763600-180806800	Weak transcription	Psoas Muscle	Psoas
16	chr1:180766200-180784800	Weak transcription	Fetal Lung	lung
17	chr1:180767400-180820400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:180767600-180795400	Weak transcription	Thymus	Thymus
19	chr1:180768000-180812000	Weak transcription	Pancreas	Pancrea
20	chr1:180769000-180802000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:180770400-180783600	Weak transcription	Fetal Heart	heart
22	chr1:180771000-180783800	Weak transcription	HepG2	liver
23	chr1:180771000-180813600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:180771200-180785600	Weak transcription	HUVEC	blood vessel
25	chr1:180772000-180789400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:180772000-180789400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:180772000-180823200	Weak transcription	Fetal Stomach	stomach
28	chr1:180772200-180801800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:180772400-180784600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:180773000-180799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:180773000-180802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:180773400-180849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:180773800-180796600	Weak transcription	Spleen	Spleen
34	chr1:180773800-180853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:180774000-180806800	Weak transcription	Placenta	Placenta
36	chr1:180774200-180785000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:180774400-180785800	Weak transcription	Esophagus	oesophagus
38	chr1:180774400-180797200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:180774600-180782600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:180774600-180783000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:180774600-180783200	Weak transcription	Brain Anterior Caudate	brain
42	chr1:180775000-180783200	Weak transcription	Fetal Kidney	kidney
43	chr1:180775000-180787400	Weak transcription	GM12878-XiMat	blood
44	chr1:180775000-180794000	Weak transcription	NH-A	brain
45	chr1:180775000-180831600	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:180775200-180783600	Weak transcription	K562	blood
47	chr1:180775600-180796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:180776400-180798400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:180776400-180801800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:180776600-180790400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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