Variant report

Variant	rs12023751
Chromosome Location	chr1:85660454-85660455
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85649149..85651128-chr1:85658455..85661384,2	K562	blood:
2	chr1:85660381..85662955-chr1:85716611..85718297,2	K562	blood:
3	chr1:85658898..85664597-chr1:85664894..85668250,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11805650	0.95[EUR][1000 genomes]
rs12021868	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12022814	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12028707	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12034359	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12034501	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12034937	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12036276	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12039804	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12040408	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12041155	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12043409	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12045141	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1674179	0.89[EUR][1000 genomes]
rs17099217	1.00[AFR][1000 genomes]
rs17121656	1.00[AFR][1000 genomes]
rs17121745	1.00[AFR][1000 genomes]
rs17121935	1.00[AFR][1000 genomes]
rs2305930	1.00[AFR][1000 genomes]
rs2305931	1.00[AFR][1000 genomes]
rs28410552	1.00[AFR][1000 genomes]
rs41289039	1.00[AFR][1000 genomes]
rs56191061	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57222060	1.00[AFR][1000 genomes]
rs57516443	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs58068482	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58246117	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58604582	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs58659750	1.00[AFR][1000 genomes]
rs59030463	1.00[AFR][1000 genomes]
rs59248240	1.00[AFR][1000 genomes]
rs60866399	1.00[AFR][1000 genomes]
rs72482805	0.95[EUR][1000 genomes]
rs7513769	0.95[EUR][1000 genomes]
rs817387	0.93[EUR][1000 genomes]
rs817395	0.93[EUR][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	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
4	esv1792086	chr1:85644478-85667608	Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
2	chr1:85627400-85663000	Weak transcription	NHEK	skin
3	chr1:85627800-85664400	Weak transcription	Osteobl	bone
4	chr1:85639000-85665400	Weak transcription	Placenta	Placenta
5	chr1:85644200-85664400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:85645800-85663800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:85646000-85661400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:85646000-85664800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:85646200-85663600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:85646600-85665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:85646800-85663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:85647000-85661400	Weak transcription	Right Ventricle	heart
13	chr1:85647200-85664400	Weak transcription	Fetal Kidney	kidney
14	chr1:85648400-85665200	Weak transcription	Ovary	ovary
15	chr1:85648400-85665200	Weak transcription	HSMM	muscle
16	chr1:85648600-85661200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:85648800-85664600	Weak transcription	NH-A	brain
18	chr1:85649200-85665800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:85653600-85664200	Weak transcription	HMEC	breast
20	chr1:85654000-85664800	Weak transcription	HUVEC	blood vessel
21	chr1:85654000-85665600	Weak transcription	Brain Anterior Caudate	brain
22	chr1:85654400-85665600	Weak transcription	Brain Substantia Nigra	brain
23	chr1:85654400-85665800	Weak transcription	Gastric	stomach
24	chr1:85654400-85665800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:85654800-85664600	Weak transcription	Colonic Mucosa	Colon
26	chr1:85654800-85665600	Weak transcription	Pancreas	Pancrea
27	chr1:85655000-85661200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:85655200-85661600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:85655400-85661400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:85656000-85661400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:85656000-85661400	Weak transcription	Aorta	Aorta
32	chr1:85656000-85664000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:85656000-85664600	Weak transcription	Fetal Stomach	stomach
34	chr1:85656000-85664600	Weak transcription	NHLF	lung
35	chr1:85656000-85665600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:85656200-85661000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:85656200-85661200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:85656200-85661200	Weak transcription	Liver	Liver
39	chr1:85656200-85661200	Weak transcription	HepG2	liver
40	chr1:85656200-85661400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:85656200-85661400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:85656200-85661400	Weak transcription	Adipose Nuclei	Adipose
43	chr1:85656200-85661400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:85656200-85661400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:85656200-85661400	Weak transcription	K562	blood
46	chr1:85656200-85663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:85656200-85663800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:85656200-85663800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:85656200-85663800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:85656200-85664200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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