Variant report

Variant	rs73170845
Chromosome Location	chr3:17749499-17749500
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	CEBPB	chr3:17749343-17749558	K562	blood:	n/a	chr3:17749462-17749473
2	CEBPB	chr3:17749307-17749620	IMR90	lung:	n/a	chr3:17749462-17749473
3	CEBPB	chr3:17749332-17749599	HepG2	liver:	n/a	chr3:17749462-17749473

No.	Distal block	Cell Line	Cell type
1	chr3:17748459..17751783-chr3:17756414..17759059,3	K562	blood:
2	chr3:17748021..17751254-chr3:17782290..17784175,4	MCF-7	breast:
3	chr3:17748682..17751400-chr3:17752667..17754505,2	K562	blood:
4	chr3:17749020..17751309-chr3:17782613..17784937,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233133	TF binding region
ENSG00000131374	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs11914537	0.87[AMR][1000 genomes]
rs11914797	0.87[AMR][1000 genomes]
rs11915560	0.87[AMR][1000 genomes]
rs11916424	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11921699	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11922861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11923635	0.87[AMR][1000 genomes]
rs11924147	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11924560	1.00[EUR][1000 genomes]
rs11925226	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11925353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11926072	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11926087	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11926251	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11927232	1.00[EUR][1000 genomes]
rs11927283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11927769	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11927967	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11929046	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11929521	1.00[EUR][1000 genomes]
rs12106899	0.87[AMR][1000 genomes]
rs12106900	0.87[AMR][1000 genomes]
rs12107061	1.00[EUR][1000 genomes]
rs12152509	0.87[AMR][1000 genomes]
rs12185952	0.87[AMR][1000 genomes]
rs28525383	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57352109	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58152540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58392667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58848058	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58921548	1.00[EUR][1000 genomes]
rs59582994	0.87[AMR][1000 genomes]
rs59891221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59960076	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60245392	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60459720	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60662240	1.00[EUR][1000 genomes]
rs60803166	1.00[EUR][1000 genomes]
rs60838916	1.00[EUR][1000 genomes]
rs60940413	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61650046	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61698855	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6577595	1.00[EUR][1000 genomes]
rs6577629	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6763348	1.00[EUR][1000 genomes]
rs6796915	1.00[EUR][1000 genomes]
rs73160940	0.87[AMR][1000 genomes]
rs73160942	0.87[AMR][1000 genomes]
rs73160943	0.87[AMR][1000 genomes]
rs73160950	0.87[AMR][1000 genomes]
rs73160951	0.87[AMR][1000 genomes]
rs73160957	0.87[AMR][1000 genomes]
rs73160959	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160964	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160967	0.87[AMR][1000 genomes]
rs73164768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164796	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165722	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165729	0.87[AMR][1000 genomes]
rs73165734	0.87[AMR][1000 genomes]
rs73165735	0.87[AMR][1000 genomes]
rs73165736	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165740	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165743	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165752	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165764	0.87[AMR][1000 genomes]
rs73165771	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165774	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165775	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165777	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165779	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165792	0.87[AMR][1000 genomes]
rs73165798	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73166516	1.00[EUR][1000 genomes]
rs73166544	1.00[EUR][1000 genomes]
rs73167503	1.00[AMR][1000 genomes]
rs73167510	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167513	1.00[EUR][1000 genomes]
rs73167514	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167523	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73168748	1.00[EUR][1000 genomes]
rs73168752	1.00[EUR][1000 genomes]
rs73170844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170855	1.00[EUR][1000 genomes]
rs73170858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73172909	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73172914	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73172924	1.00[EUR][1000 genomes]
rs7619879	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7620585	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621577	1.00[EUR][1000 genomes]
rs7630381	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7631803	1.00[EUR][1000 genomes]
rs7648122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9680896	1.00[EUR][1000 genomes]
rs9754654	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9754657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9968236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1828838	chr3:17646794-17757960	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv999594	chr3:17690416-17982318	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17711400-17755000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:17731600-17755600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:17732600-17755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:17733200-17755600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:17734800-17753200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:17735200-17755600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:17735200-17755800	Weak transcription	Lung	lung
8	chr3:17735400-17750800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:17735400-17754200	Weak transcription	Primary B cells from cord blood	blood
10	chr3:17735400-17755400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:17735400-17755600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:17735400-17755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:17744400-17755600	Weak transcription	Left Ventricle	heart
14	chr3:17745200-17755800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr3:17745400-17755400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:17746200-17755600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:17746800-17755800	Weak transcription	Esophagus	oesophagus
18	chr3:17747000-17756800	Weak transcription	Colonic Mucosa	Colon
19	chr3:17747400-17755400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:17747800-17755200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:17748000-17755200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:17748000-17755400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:17748000-17755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:17748000-17755800	Weak transcription	Fetal Intestine Small	intestine
25	chr3:17748000-17756000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:17748200-17755200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:17748200-17755200	Weak transcription	Dnd41	blood
28	chr3:17748400-17755400	Weak transcription	Primary T cells from cord blood	blood
29	chr3:17749000-17749800	Enhancers	HUVEC	blood vessel
30	chr3:17749200-17749600	Enhancers	A549	lung
31	chr3:17749200-17749800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:17749400-17749600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:17749400-17749800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:17749400-17749800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:17749400-17755600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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