Variant report

Variant	rs12568734
Chromosome Location	chr1:47184539-47184540
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:47134358..47137339-chr1:47183387..47185827,2	MCF-7	breast:
2	chr1:47133847..47136859-chr1:47183270..47186412,3	K562	blood:
3	chr1:47184373..47185192-chr6:3118450..3119204,2	Hela-S3	cervix:
4	chr1:47080724..47082396-chr1:47183672..47185631,2	MCF-7	breast:
5	chr1:47132021..47134292-chr1:47182751..47186267,3	MCF-7	breast:
6	chr1:47184305..47184881-chr17:35849450..35850026,2	Hela-S3	cervix:
7	chr1:46871688..46875401-chr1:47182655..47185240,3	K562	blood:
8	chr1:47131887..47139340-chr1:47181784..47186573,11	K562	blood:
9	chr1:47160988..47163658-chr1:47182412..47184770,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137274	Chromatin interaction
ENSG00000159658	Chromatin interaction
ENSG00000142961	Chromatin interaction
ENSG00000117480	Chromatin interaction
ENSG00000233647	Chromatin interaction
ENSG00000161326	Chromatin interaction
ENSG00000123472	Chromatin interaction
ENSG00000186118	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10890410	0.97[ASN][1000 genomes]
rs10890414	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211343	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11801744	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12562113	0.87[ASN][1000 genomes]
rs12566278	0.87[ASN][1000 genomes]
rs1258055	0.85[ASN][1000 genomes]
rs1258058	0.85[ASN][1000 genomes]
rs1258063	0.84[ASN][1000 genomes]
rs1258064	0.85[ASN][1000 genomes]
rs1258065	0.85[ASN][1000 genomes]
rs1258066	0.85[ASN][1000 genomes]
rs1258068	0.85[ASN][1000 genomes]
rs1258072	0.83[ASN][1000 genomes]
rs1268714	0.85[ASN][1000 genomes]
rs1273237	0.85[ASN][1000 genomes]
rs13374909	0.85[ASN][1000 genomes]
rs1745376	0.85[ASN][1000 genomes]
rs1933932	0.85[ASN][1000 genomes]
rs2146560	0.85[ASN][1000 genomes]
rs2181412	0.85[ASN][1000 genomes]
rs2241863	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2241864	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2439442	0.93[ASN][1000 genomes]
rs2476153	0.87[ASN][1000 genomes]
rs2476155	0.87[ASN][1000 genomes]
rs2476156	0.87[ASN][1000 genomes]
rs2476157	0.92[ASN][1000 genomes]
rs2476159	0.91[ASN][1000 genomes]
rs2486160	0.92[ASN][1000 genomes]
rs2486162	0.87[ASN][1000 genomes]
rs3011290	0.86[ASN][1000 genomes]
rs3766218	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3766220	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3766221	0.96[ASN][1000 genomes]
rs3766222	0.97[ASN][1000 genomes]
rs3766223	0.97[ASN][1000 genomes]
rs56771521	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57495753	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs582269	0.93[ASN][1000 genomes]
rs582323	0.92[ASN][1000 genomes]
rs582760	0.93[ASN][1000 genomes]
rs583649	0.92[ASN][1000 genomes]
rs58678760	0.97[ASN][1000 genomes]
rs58920789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59479990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596794	0.93[ASN][1000 genomes]
rs597221	0.93[ASN][1000 genomes]
rs60239027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs604233	0.92[ASN][1000 genomes]
rs604264	0.86[ASN][1000 genomes]
rs611919	0.93[ASN][1000 genomes]
rs629412	0.92[ASN][1000 genomes]
rs631368	0.92[ASN][1000 genomes]
rs631840	0.86[ASN][1000 genomes]
rs636082	0.93[ASN][1000 genomes]
rs636122	0.87[ASN][1000 genomes]
rs636424	0.93[ASN][1000 genomes]
rs648822	0.86[ASN][1000 genomes]
rs654544	0.93[ASN][1000 genomes]
rs655369	0.93[ASN][1000 genomes]
rs657166	0.93[ASN][1000 genomes]
rs669647	0.97[ASN][1000 genomes]
rs673134	0.93[ASN][1000 genomes]
rs675731	0.87[ASN][1000 genomes]
rs678466	0.82[ASN][1000 genomes]
rs683585	0.86[ASN][1000 genomes]
rs689300	0.93[ASN][1000 genomes]
rs723333	0.85[ASN][1000 genomes]
rs72896683	0.85[ASN][1000 genomes]
rs72900715	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736188	0.85[ASN][1000 genomes]
rs9094	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47182000-47185200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:47182800-47184600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr1:47182800-47185200	Active TSS	Gastric	stomach
4	chr1:47183000-47184600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:47183000-47185200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:47183400-47185400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:47183600-47184600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:47183600-47184800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:47183600-47185200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:47183600-47185200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:47183600-47185200	Active TSS	Fetal Kidney	kidney
12	chr1:47183800-47184600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:47183800-47184800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:47183800-47185200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:47183800-47185200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:47183800-47185200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:47183800-47185200	Active TSS	NHDF-Ad	bronchial
18	chr1:47183800-47185200	Active TSS	NHLF	lung
19	chr1:47183800-47185400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:47183800-47185400	Active TSS	Aorta	Aorta
21	chr1:47183800-47185400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:47184000-47184800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:47184000-47185000	Active TSS	Small Intestine	intestine
24	chr1:47184000-47185000	Active TSS	GM12878-XiMat	blood
25	chr1:47184000-47185000	Active TSS	HMEC	breast
26	chr1:47184000-47185000	Active TSS	NHEK	skin
27	chr1:47184000-47185200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:47184000-47185200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:47184000-47185200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:47184000-47185200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:47184000-47185200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:47184000-47185200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr1:47184000-47185200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:47184000-47185200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:47184000-47185200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:47184000-47185200	Active TSS	Colon Smooth Muscle	Colon
37	chr1:47184000-47185200	Active TSS	Fetal Intestine Large	intestine
38	chr1:47184000-47185200	Active TSS	Fetal Lung	lung
39	chr1:47184000-47185200	Active TSS	Left Ventricle	heart
40	chr1:47184000-47185200	Active TSS	Pancreas	Pancrea
41	chr1:47184000-47185200	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr1:47184000-47185200	Active TSS	Spleen	Spleen
43	chr1:47184000-47185200	Active TSS	A549	lung
44	chr1:47184000-47185200	Active TSS	HSMM	muscle
45	chr1:47184000-47185400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr1:47184000-47185400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:47184000-47185400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:47184000-47185400	Active TSS	Brain Germinal Matrix	brain
49	chr1:47184000-47185400	Active TSS	Esophagus	oesophagus
50	chr1:47184000-47185400	Active TSS	Ovary	ovary

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