Variant report

Variant	rs34796684
Chromosome Location	chr3:28392040-28392041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:28389421-28392084	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:28388873-28392054	IMR90	lung:	n/a	n/a
3	POLR2A	chr3:28388560-28395839	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr3:28388762-28392516	K562	blood:	n/a	n/a
5	POLR2A	chr3:28387839-28396035	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:28360111..28361698-chr3:28390791..28393091,2	K562	blood:
2	chr3:28279814..28285757-chr3:28388127..28392208,14	K562	blood:
3	chr3:28390959..28393888-chr3:28439197..28440878,2	K562	blood:
4	chr3:28391232..28393248-chr3:28418194..28419782,2	K562	blood:
5	chr3:23957644..23960053-chr3:28390990..28393934,2	K562	blood:
6	chr3:28279814..28284603-chr3:28388127..28392296,9	K562	blood:

No data

Variant related genes	Relation type
AZI2	TF binding region
ENSG00000197885	Chromatin interaction
ENSG00000187118	Chromatin interaction
ENSG00000174748	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1037723	0.91[ASN][1000 genomes]
rs11705962	0.87[ASN][1000 genomes]
rs11706332	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11707705	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11710963	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11712484	0.88[ASN][1000 genomes]
rs11712489	0.88[ASN][1000 genomes]
rs11720107	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11918050	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11921692	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11924173	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11926399	0.93[ASN][1000 genomes]
rs13066118	0.85[ASN][1000 genomes]
rs13069839	0.81[ASN][1000 genomes]
rs13074633	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13075840	0.93[ASN][1000 genomes]
rs13080155	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13081520	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13081787	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13087143	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13087774	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13088574	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13090439	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13095628	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13095675	0.82[ASN][1000 genomes]
rs13099152	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1457909	0.88[ASN][1000 genomes]
rs1457910	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1606386	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1606388	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17021402	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17357206	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17638742	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17638782	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17638991	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17695765	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17695884	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17696025	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17696459	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17696561	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17696783	0.91[ASN][1000 genomes]
rs1975828	0.82[ASN][1000 genomes]
rs1975829	0.80[ASN][1000 genomes]
rs34311197	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34574968	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35088087	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35137555	0.88[ASN][1000 genomes]
rs35177150	0.91[ASN][1000 genomes]
rs35702956	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35736614	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35825908	0.91[ASN][1000 genomes]
rs35845822	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36051688	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36105900	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762797	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4234337	0.86[ASN][1000 genomes]
rs4256085	0.86[ASN][1000 genomes]
rs4295137	0.86[ASN][1000 genomes]
rs4322963	0.86[ASN][1000 genomes]
rs4428136	0.84[ASN][1000 genomes]
rs4450765	0.86[ASN][1000 genomes]
rs4452283	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4522735	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4680750	0.82[ASN][1000 genomes]
rs4680753	0.86[ASN][1000 genomes]
rs58918848	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59975750	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60043893	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62250271	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62250272	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62250273	0.92[ASN][1000 genomes]
rs62250296	0.91[ASN][1000 genomes]
rs62251105	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62251108	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62251131	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62251134	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62251138	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62251144	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62252069	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6551255	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66733194	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66767946	0.87[ASN][1000 genomes]
rs6763313	0.82[ASN][1000 genomes]
rs6771057	0.82[ASN][1000 genomes]
rs6771460	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68085718	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71087683	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7434193	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7627471	0.85[ASN][1000 genomes]
rs7627575	0.86[ASN][1000 genomes]
rs7635383	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7638450	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7639750	0.82[ASN][1000 genomes]
rs7643191	0.88[ASN][1000 genomes]
rs7649498	0.82[ASN][1000 genomes]
rs7650831	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs952888	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9683360	0.91[ASN][1000 genomes]
rs969443	0.91[ASN][1000 genomes]
rs9843464	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2500136	chr3:28391396-28393792	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv2010454	chr3:28391892-28393499	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3461675	chr3:28391934-28393405	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3461670	chr3:28391947-28393385	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3461671	chr3:28391981-28393401	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3461672	chr3:28392005-28393355	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	5 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	chr3:28387600-28392200	Active TSS	Right Atrium	heart
2	chr3:28388400-28392200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:28389200-28392200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:28391000-28392200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:28391000-28394400	Weak transcription	Spleen	Spleen
6	chr3:28391200-28393600	Weak transcription	Gastric	stomach
7	chr3:28391200-28395200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:28391400-28392200	Enhancers	Brain Anterior Caudate	brain
9	chr3:28391400-28392400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:28391400-28392800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:28391400-28393200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:28391400-28393200	Weak transcription	Fetal Kidney	kidney
13	chr3:28391400-28393200	Weak transcription	Ovary	ovary
14	chr3:28391400-28393600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:28391400-28393600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:28391400-28393600	Weak transcription	Aorta	Aorta
17	chr3:28391400-28393600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:28391400-28393600	Weak transcription	Pancreas	Pancrea
19	chr3:28391400-28393600	Weak transcription	HSMM	muscle
20	chr3:28391400-28394000	Weak transcription	Brain Substantia Nigra	brain
21	chr3:28391400-28394200	Weak transcription	Left Ventricle	heart
22	chr3:28391400-28394400	Weak transcription	Placenta	Placenta
23	chr3:28391400-28394400	Weak transcription	Fetal Stomach	stomach
24	chr3:28391400-28395200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:28391400-28395200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:28391400-28396000	Weak transcription	Colonic Mucosa	Colon
27	chr3:28391600-28392200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:28391600-28392200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr3:28391600-28392200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:28391600-28392200	Enhancers	HepG2	liver
31	chr3:28391600-28392400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:28391600-28392400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr3:28391600-28392600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr3:28391600-28392600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:28391600-28392600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr3:28391600-28392800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:28391600-28392800	Weak transcription	Fetal Lung	lung
38	chr3:28391600-28392800	Weak transcription	Psoas Muscle	Psoas
39	chr3:28391600-28393200	Weak transcription	Primary B cells from cord blood	blood
40	chr3:28391600-28393400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:28391600-28394600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:28391600-28395400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:28391600-28395400	Weak transcription	Brain Hippocampus Middle	brain
44	chr3:28391600-28397800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr3:28391600-28398600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:28391800-28392200	Enhancers	Primary T cells from cord blood	blood
47	chr3:28391800-28392200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:28391800-28392200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr3:28391800-28392400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr3:28391800-28392400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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