Variant report

Variant	rs73035115
Chromosome Location	chr1:173685680-173685681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173684233..173685986-chr1:173834072..173838019,3	K562	blood:
2	chr1:173684233..173688038-chr1:173834072..173837696,4	K562	blood:
3	chr1:173682535..173686916-chr1:173792397..173795534,7	K562	blood:
4	chr1:173683067..173686676-chr1:173791976..173794755,4	K562	blood:
5	chr1:173682287..173685888-chr1:173836010..173838228,4	MCF-7	breast:
6	chr1:173682967..173685869-chr1:173831317..173832954,2	K562	blood:
7	chr1:173446233..173448381-chr1:173683311..173685708,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000208317	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs2126126	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28865644	0.85[AFR][1000 genomes]
rs35515638	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56660187	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57520670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58193236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58356308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60228238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60656154	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61286800	0.89[AFR][1000 genomes]
rs6425260	1.00[AMR][1000 genomes]
rs6663103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674573	1.00[AMR][1000 genomes]
rs6694637	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031308	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031331	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73033104	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73033138	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035152	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035157	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035162	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037024	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037030	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037062	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516013	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537349	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542780	0.92[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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active 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	294 gene(s)	inside rSNPs	diseases
2	nsv1014827	chr1:173653453-173692470	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173683400-173685800	Active TSS	Muscle Satellite Cultured Cells	--
2	chr1:173683400-173685800	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:173683400-173686000	Active TSS	K562	blood
4	chr1:173683400-173686600	Active TSS	GM12878-XiMat	blood
5	chr1:173683800-173685800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:173683800-173685800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:173683800-173685800	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr1:173684000-173686000	Active TSS	HMEC	breast
9	chr1:173684600-173685800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:173684600-173686200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:173684800-173686000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:173684800-173687600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:173684800-173695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:173684800-173702800	Weak transcription	Spleen	Spleen
15	chr1:173685000-173686200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:173685000-173686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:173685000-173686200	Flanking Active TSS	Liver	Liver
18	chr1:173685000-173686200	Flanking Active TSS	Dnd41	blood
19	chr1:173685000-173686400	Weak transcription	Gastric	stomach
20	chr1:173685000-173687200	Weak transcription	Lung	lung
21	chr1:173685000-173695200	Weak transcription	Esophagus	oesophagus
22	chr1:173685000-173695200	Weak transcription	Pancreas	Pancrea
23	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
24	chr1:173685200-173685800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:173685200-173685800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:173685200-173685800	Enhancers	Osteobl	bone
27	chr1:173685200-173686000	Enhancers	Fetal Kidney	kidney
28	chr1:173685200-173686000	Weak transcription	NHDF-Ad	bronchial
29	chr1:173685200-173686400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:173685200-173686400	Weak transcription	Ovary	ovary
31	chr1:173685200-173686400	Weak transcription	Right Ventricle	heart
32	chr1:173685200-173686600	Weak transcription	Stomach Mucosa	stomach
33	chr1:173685200-173686800	Enhancers	Brain Angular Gyrus	brain
34	chr1:173685200-173686800	Enhancers	Colon Smooth Muscle	Colon
35	chr1:173685200-173687000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:173685200-173687000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr1:173685200-173687400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:173685200-173687600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr1:173685200-173687800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:173685200-173687800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr1:173685200-173689400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:173685200-173690400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:173685200-173692200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:173685200-173692200	Weak transcription	Placenta	Placenta
45	chr1:173685200-173693400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:173685200-173694000	Weak transcription	Left Ventricle	heart
47	chr1:173685200-173694200	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:173685200-173694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:173685200-173694400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:173685200-173694400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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