Variant report

Variant	rs57562814
Chromosome Location	chr1:171531499-171531500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171524993..171527275-chr1:171529233..171532217,2	K562	blood:
2	chr1:171529417..171532285-chr1:171544037..171546215,3	K562	blood:
3	chr1:171527947..171533279-chr1:171534961..171539574,5	K562	blood:
4	chr1:171529417..171533127-chr1:171543800..171546215,3	K562	blood:
5	chr1:171508118..171510505-chr1:171531032..171533856,2	K562	blood:
6	chr1:171528756..171533659-chr1:171534422..171537081,4	MCF-7	breast:
7	chr1:171528043..171532235-chr1:171534961..171538235,5	K562	blood:
8	chr1:171529487..171532433-chr1:171541156..171543384,2	MCF-7	breast:
9	chr1:171524993..171527170-chr1:171529233..171532079,2	K562	blood:
10	chr1:171527528..171529166-chr1:171530115..171532171,2	K562	blood:
11	chr1:171526513..171528515-chr1:171529740..171532609,2	MCF-7	breast:

No data

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10913119	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10913149	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10913157	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10913285	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913292	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12564279	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12567152	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2038040	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038041	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038043	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2294291	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3204333	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60014783	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6669168	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6676140	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6681173	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6702038	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72717832	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72717839	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717840	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717853	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72717854	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7517178	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7521480	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7522026	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood
2	chr1:171521600-171532400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:171521600-171563800	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr1:171521800-171562800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:171522600-171564000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr1:171522800-171564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:171522800-171564200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr1:171522800-171564400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:171523200-171531600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:171523800-171531600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:171524200-171532200	Strong transcription	Brain Substantia Nigra	brain
12	chr1:171524200-171537800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:171524200-171537800	Strong transcription	Brain Anterior Caudate	brain
14	chr1:171524200-171538200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:171524200-171549600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:171524200-171562800	Strong transcription	Liver	Liver
17	chr1:171524200-171564400	Strong transcription	Adipose Nuclei	Adipose
18	chr1:171524400-171531600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:171524400-171531600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:171524400-171531600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr1:171524400-171531800	Strong transcription	Placenta	Placenta
22	chr1:171524400-171532200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:171524400-171533400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:171524400-171537600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr1:171524400-171538200	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:171524400-171538400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:171524400-171541000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:171524400-171549000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:171524400-171549000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:171524400-171553000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:171524400-171558200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:171524400-171563600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:171524400-171564400	Strong transcription	Fetal Thymus	thymus
34	chr1:171524400-171564600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:171524400-171566400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:171524600-171531600	Strong transcription	Brain Angular Gyrus	brain
37	chr1:171524600-171532400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:171524600-171537200	Strong transcription	Brain Hippocampus Middle	brain
39	chr1:171524600-171558600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:171524800-171532400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:171524800-171532600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:171524800-171537600	Strong transcription	Primary T cells from cord blood	blood
43	chr1:171525000-171532000	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr1:171525000-171532000	Strong transcription	Osteobl	bone
45	chr1:171525000-171532200	Strong transcription	NHEK	skin
46	chr1:171525000-171532600	Strong transcription	HMEC	breast
47	chr1:171525200-171531600	Strong transcription	HSMMtube	muscle
48	chr1:171525200-171555200	Strong transcription	Primary B cells from cord blood	blood
49	chr1:171525200-171564000	Strong transcription	HUVEC	blood vessel
50	chr1:171525400-171531600	Strong transcription	Thymus	Thymus

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