Variant report

Variant	rs57740496
Chromosome Location	chr1:173686838-173686839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173686308..173688392-chr1:173689930..173692042,2	K562	blood:
2	chr1:173686216..173687823-chr1:173831086..173833729,2	K562	blood:
3	chr1:173685811..173687806-chr1:173687936..173689496,2	K562	blood:
4	chr1:173684233..173688038-chr1:173834072..173837696,4	K562	blood:
5	chr1:173682535..173686916-chr1:173792397..173795534,7	K562	blood:
6	chr1:173680023..173685703-chr1:173685874..173692365,9	K562	blood:

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000208317	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs14262	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1885679	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227602	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227617	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56913226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57068378	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57652095	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57688313	0.90[AFR][1000 genomes]
rs59175258	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60504641	1.00[AMR][1000 genomes]
rs61083918	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61625780	0.90[AFR][1000 genomes];1.00[AMR][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173684800-173687600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:173684800-173695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:173684800-173702800	Weak transcription	Spleen	Spleen
4	chr1:173685000-173687200	Weak transcription	Lung	lung
5	chr1:173685000-173695200	Weak transcription	Esophagus	oesophagus
6	chr1:173685000-173695200	Weak transcription	Pancreas	Pancrea
7	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
8	chr1:173685200-173687000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:173685200-173687000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:173685200-173687400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr1:173685200-173687600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:173685200-173687800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:173685200-173687800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:173685200-173689400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:173685200-173690400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:173685200-173692200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:173685200-173692200	Weak transcription	Placenta	Placenta
18	chr1:173685200-173693400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:173685200-173694000	Weak transcription	Left Ventricle	heart
20	chr1:173685200-173694200	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:173685200-173694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:173685200-173694400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:173685200-173694400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:173685200-173694400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:173685200-173694400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:173685200-173694600	Weak transcription	Colonic Mucosa	Colon
27	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:173685400-173687000	Enhancers	Primary T cells from cord blood	blood
29	chr1:173685400-173687200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:173685400-173687200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:173685400-173687200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:173685400-173687200	Weak transcription	Fetal Stomach	stomach
33	chr1:173685400-173687400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:173685400-173690000	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:173685400-173690400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:173685400-173690600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:173685400-173690600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:173685400-173691200	Weak transcription	Thymus	Thymus
39	chr1:173685400-173691400	Weak transcription	Aorta	Aorta
40	chr1:173685400-173694000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:173685400-173694200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:173685400-173694400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:173685400-173694400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:173685400-173694400	Weak transcription	Fetal Brain Male	brain
45	chr1:173685400-173702800	Weak transcription	Psoas Muscle	Psoas
46	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:173685600-173687200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:173685600-173691200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:173685600-173692200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:173685600-173693800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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