Variant report

Variant	rs360099
Chromosome Location	chr1:226066861-226066862
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:226066780-226066930	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226063406..226070293-chr1:226107715..226112317,7	K562	blood:
2	chr1:225997762..225999546-chr1:226064729..226066981,2	MCF-7	breast:
3	chr1:225839309..225842570-chr1:226062972..226068660,6	MCF-7	breast:
4	chr1:226061864..226068048-chr1:226072871..226078674,7	MCF-7	breast:
5	chr1:226066286..226068064-chr1:226160996..226163119,2	K562	blood:
6	chr1:226066024..226068193-chr1:226076140..226078255,2	MCF-7	breast:
7	chr1:226065700..226068385-chr1:226110654..226114654,4	K562	blood:
8	chr1:226066440..226072029-chr1:226106315..226113044,10	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM63A	TF binding region
ENSG00000243709	Chromatin interaction
ENSG00000143819	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1223244	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12747508	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs168617	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2292563	0.83[EUR][1000 genomes]
rs2292564	0.83[EUR][1000 genomes]
rs360060	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs360076	0.82[EUR][1000 genomes]
rs360093	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs360094	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs360097	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs360098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360100	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3820236	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6426090	0.82[EUR][1000 genomes]
rs7515156	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS 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
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr1:226050200-226068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:226058400-226067200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:226059600-226068800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:226060200-226068600	Weak transcription	NH-A	brain
6	chr1:226062000-226067200	Genic enhancers	Fetal Intestine Large	intestine
7	chr1:226062800-226067000	Genic enhancers	Fetal Intestine Small	intestine
8	chr1:226063000-226068200	Genic enhancers	Fetal Muscle Leg	muscle
9	chr1:226063200-226068200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:226063400-226067800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:226063600-226067000	Enhancers	Colonic Mucosa	Colon
12	chr1:226064200-226068000	Weak transcription	NHEK	skin
13	chr1:226064400-226067800	Weak transcription	HMEC	breast
14	chr1:226064600-226067200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:226064600-226067200	Enhancers	Fetal Heart	heart
16	chr1:226064600-226067400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:226064800-226067200	Genic enhancers	NHLF	lung
18	chr1:226064800-226067600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:226064800-226068200	Enhancers	NHDF-Ad	bronchial
20	chr1:226065000-226067000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:226065000-226067200	Genic enhancers	Gastric	stomach
22	chr1:226065000-226068000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:226065000-226068800	Enhancers	Left Ventricle	heart
24	chr1:226065000-226068800	Enhancers	Psoas Muscle	Psoas
25	chr1:226065000-226068800	Enhancers	Right Ventricle	heart
26	chr1:226065000-226068800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:226065000-226069200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:226065200-226067400	Enhancers	Liver	Liver
29	chr1:226065200-226068200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:226065200-226068600	Enhancers	Aorta	Aorta
31	chr1:226065200-226068800	Enhancers	Right Atrium	heart
32	chr1:226065200-226069000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:226065400-226068000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:226065400-226068000	Enhancers	Stomach Mucosa	stomach
35	chr1:226065400-226068200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:226065400-226068400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
37	chr1:226065400-226068600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:226065400-226069000	Enhancers	Brain Angular Gyrus	brain
39	chr1:226065400-226069400	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr1:226065600-226067000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:226065600-226067000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:226065600-226067000	Genic enhancers	Thymus	Thymus
43	chr1:226065600-226067200	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:226065600-226067200	Enhancers	Brain Anterior Caudate	brain
45	chr1:226065600-226067200	Enhancers	Pancreas	Pancrea
46	chr1:226065600-226067400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:226065600-226067400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:226065600-226067400	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr1:226065600-226068000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:226065600-226068000	Weak transcription	Hela-S3	cervix

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