Variant report

Variant	rs71500673
Chromosome Location	chr1:75602384-75602385
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr1:75599429-75602521	H1-hESC	embryonic stem cell:	n/a	chr1:75602025-75602038 chr1:75602438-75602451 chr1:75601080-75601088 chr1:75602026-75602037 chr1:75599664-75599677
2	MXI1	chr1:75602130-75602455	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr1:75602300-75602450	WERI-Rb-1	eye:	n/a	n/a
4	POLR2A	chr1:75599935-75602562	H1-neurons	neurons:	n/a	n/a
5	BACH1	chr1:75601856-75603352	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF263	chr1:75601658-75603272	HEK293-T-REx	kidney:	n/a	chr1:75602262-75602283 chr1:75602739-75602748
7	CHD2	chr1:75602001-75602398	H1-hESC	embryonic stem cell:	n/a	chr1:75602221-75602231 chr1:75602204-75602214
8	CHD1	chr1:75602303-75602434	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF143	chr1:75601934-75602584	H1-hESC	embryonic stem cell:	n/a	chr1:75602420-75602430
10	MAX	chr1:75602003-75603120	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr1:75602374-75602388	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr1:75601671-75603505	H1-hESC	embryonic stem cell:	n/a	n/a
13	SUZ12	chr1:75601965-75603504	NT2-D1	testis:	n/a	n/a
14	SUZ12	chr1:75602078-75602507	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr1:75601966-75602582	H1-hESC	embryonic stem cell:	n/a	n/a
16	TBP	chr1:75602178-75602392	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:75596503-75602546	H1-neurons	neurons:	n/a	n/a
18	EGR1	chr1:75601858-75602466	H1-hESC	embryonic stem cell:	n/a	chr1:75602000-75602013 chr1:75602000-75602010 chr1:75602446-75602456 chr1:75601999-75602014 chr1:75602000-75602013 chr1:75602004-75602014 chr1:75602047-75602057 chr1:75602417-75602427

Variant related genes	Relation type
ENSG00000224127	TF binding region
LHX8	TF binding region
ENSG00000224149	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12129029	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129158	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129193	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133614	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138223	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142460	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723906	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726443	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729173	1.00[ASN][1000 genomes]
rs12732329	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741928	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751207	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526510	1.00[ASN][1000 genomes]
rs1526511	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852348	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852349	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188127	1.00[ASN][1000 genomes]
rs280894	1.00[ASN][1000 genomes]
rs35453094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427227	1.00[ASN][1000 genomes]
rs432933	1.00[ASN][1000 genomes]
rs56661363	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6681258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689348	1.00[ASN][1000 genomes]
rs6695423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524020	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795569	1.00[ASN][1000 genomes]
rs795571	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75598800-75603200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:75598800-75603600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:75599400-75603000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:75599600-75603400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:75600000-75602600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:75600200-75602600	Bivalent Enhancer	Spleen	Spleen
7	chr1:75600200-75602600	Bivalent/Poised TSS	A549	lung
8	chr1:75600200-75602800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:75600200-75603200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr1:75600400-75602600	Bivalent Enhancer	Fetal Brain Male	brain
11	chr1:75600600-75602800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr1:75600600-75602800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:75600600-75603800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:75600800-75602400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:75600800-75602800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:75601000-75602800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:75601200-75602600	Bivalent Enhancer	Liver	Liver
18	chr1:75601200-75602600	Bivalent/Poised TSS	Ovary	ovary
19	chr1:75601400-75602400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr1:75601400-75602600	Bivalent Enhancer	Fetal Stomach	stomach
21	chr1:75601400-75602800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr1:75601400-75603000	Enhancers	Pancreas	Pancrea
23	chr1:75601400-75603000	Bivalent Enhancer	HMEC	breast
24	chr1:75601400-75603200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr1:75601400-75603200	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr1:75601400-75603200	Bivalent Enhancer	Lung	lung
27	chr1:75601600-75602400	Bivalent Enhancer	Fetal Lung	lung
28	chr1:75601600-75602400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:75601600-75602400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
30	chr1:75601600-75602600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr1:75601600-75602800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:75601600-75602800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:75601600-75603200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr1:75601800-75602400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:75601800-75602400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:75601800-75602400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr1:75601800-75602600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
38	chr1:75601800-75602800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:75601800-75603000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:75601800-75603000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr1:75602000-75602400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
42	chr1:75602000-75602600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:75602000-75602600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr1:75602000-75602600	Enhancers	Gastric	stomach
45	chr1:75602000-75603000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:75602200-75602400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:75602200-75602400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:75602200-75602400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:75602200-75602400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
50	chr1:75602200-75602400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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