Variant report

Variant	rs10493763
Chromosome Location	chr1:85727218-85727219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:85726716-85728002	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:85726738-85730601	K562	blood:	n/a	n/a
3	POLR2A	chr1:85726385-85727786	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:85724115-85729465	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr1:85726804-85728050	A549	lung:	n/a	n/a
6	POLR2A	chr1:85727166-85728163	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:85726755-85727651	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:85727201-85727747	HepG2	liver:	n/a	n/a
9	ZNF143	chr1:85726866-85727260	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85726071..85727906-chr1:85736264..85738614,2	K562	blood:
2	chr1:85724038..85728124-chr1:85728267..85730109,3	K562	blood:
3	chr1:85723982..85727421-chr1:85728589..85731374,3	MCF-7	breast:
4	chr1:85725564..85729269-chr1:85738227..85742428,6	MCF-7	breast:
5	chr1:85723214..85729954-chr1:85738689..85743771,11	K562	blood:
6	chr1:85585559..85587607-chr1:85727157..85729626,2	K562	blood:

No data

Variant related genes	Relation type
C1orf52	TF binding region
ENSG00000223254	TF binding region
ENSG00000142867	Chromatin interaction
ENSG00000223254	Chromatin interaction
ENSG00000223653	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10158486	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782544	0.90[ASN][1000 genomes]
rs11161562	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12126112	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126141	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134420	1.00[ASW][hapmap];0.94[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12136214	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12729231	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12757160	0.83[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17382844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698331	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71652692	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85725400-85728200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:85725400-85732200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:85725400-85732200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:85725400-85733200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:85725400-85734600	Weak transcription	Small Intestine	intestine
6	chr1:85725400-85741000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:85725600-85732200	Weak transcription	Thymus	Thymus
8	chr1:85725600-85734600	Weak transcription	Lung	lung
9	chr1:85725600-85737000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:85725800-85728200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:85725800-85728400	Weak transcription	Fetal Intestine Large	intestine
12	chr1:85725800-85729200	Weak transcription	Fetal Thymus	thymus
13	chr1:85725800-85729400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:85725800-85729800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:85725800-85729800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:85725800-85730000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:85725800-85730000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:85725800-85731600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:85725800-85731600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:85725800-85731800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:85725800-85731800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:85725800-85732200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:85725800-85732200	Weak transcription	Colonic Mucosa	Colon
24	chr1:85725800-85732800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:85725800-85733800	Weak transcription	Brain Germinal Matrix	brain
26	chr1:85725800-85734600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:85725800-85734600	Weak transcription	Esophagus	oesophagus
28	chr1:85725800-85734800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:85725800-85739400	Weak transcription	Aorta	Aorta
30	chr1:85726000-85727400	Weak transcription	Pancreas	Pancrea
31	chr1:85726000-85727800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:85726000-85728000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:85726000-85728000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:85726000-85728200	Weak transcription	Stomach Mucosa	stomach
35	chr1:85726000-85728400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:85726000-85728600	Weak transcription	Liver	Liver
37	chr1:85726000-85728600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:85726000-85728600	Weak transcription	HSMM	muscle
39	chr1:85726000-85728800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:85726000-85729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:85726000-85729000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:85726000-85729200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:85726000-85729200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:85726000-85729200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:85726000-85729200	Weak transcription	Placenta	Placenta
46	chr1:85726000-85729800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:85726000-85729800	Weak transcription	NHEK	skin
48	chr1:85726000-85730000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:85726000-85730000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:85726000-85730000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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