Variant report

Variant	rs4902523
Chromosome Location	chr14:68320762-68320763
allele	C/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	GATA3	chr14:68320549-68320872	T-47D	breast:	n/a	chr14:68320676-68320686 chr14:68320643-68320654
2	SPI1	chr14:68320489-68320789	GM12891	blood:	n/a	chr14:68320590-68320603
3	SPI1	chr14:68320449-68320891	HL-60	blood:	n/a	chr14:68320590-68320603
4	GATA3	chr14:68320464-68320861	T-47D	breast:	n/a	chr14:68320676-68320686 chr14:68320643-68320654
5	SPI1	chr14:68320495-68320771	GM12891	blood:	n/a	chr14:68320590-68320603
6	FOXA1	chr14:68320546-68320769	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68310048..68312539-chr14:68319582..68321792,2	MCF-7	breast:

Variant related genes	Relation type
RAD51B	TF binding region
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10130605	0.92[EUR][1000 genomes]
rs10130837	0.92[EUR][1000 genomes]
rs10132711	0.84[CHB][hapmap]
rs10132828	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[YRI][hapmap]
rs10133485	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10133652	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes]
rs10134988	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10135316	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap]
rs10135925	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[EUR][1000 genomes]
rs10137457	1.00[CEU][hapmap]
rs10137712	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs10142687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143219	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[YRI][hapmap]
rs10143895	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap]
rs10144128	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs10145884	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10146719	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap]
rs10146766	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs10146831	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs10147569	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs10148893	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10150330	0.92[EUR][1000 genomes]
rs10151123	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap]
rs10151317	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[YRI][hapmap]
rs10450891	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[YRI][hapmap];0.92[EUR][1000 genomes]
rs10467819	0.92[EUR][1000 genomes]
rs10483805	0.84[JPT][hapmap]
rs1073025	0.92[EUR][1000 genomes]
rs1073026	0.92[EUR][1000 genomes]
rs11158710	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1118397	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11625742	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs11847628	0.95[CHD][hapmap];0.84[JPT][hapmap]
rs17104681	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs17104689	1.00[CEU][hapmap]
rs17104700	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs17104758	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17104774	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs17104783	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[YRI][hapmap];0.92[EUR][1000 genomes]
rs17104786	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17104793	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[YRI][hapmap];0.92[EUR][1000 genomes]
rs17104796	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.92[EUR][1000 genomes]
rs17104799	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.92[EUR][1000 genomes]
rs17104823	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17104824	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs17104827	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[YRI][hapmap]
rs17104829	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs17104862	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap]
rs17104863	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17104880	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs17783202	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes]
rs181572	0.84[JPT][hapmap]
rs181575	0.95[CHD][hapmap];0.84[JPT][hapmap]
rs1950766	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs1955469	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap]
rs1956346	0.84[JPT][hapmap]
rs2180537	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2235962	0.90[CHD][hapmap]
rs2235963	0.95[CHD][hapmap];0.84[JPT][hapmap]
rs2235965	0.84[JPT][hapmap]
rs2235966	0.86[JPT][hapmap]
rs2295108	0.83[JPT][hapmap]
rs2295109	1.00[MEX][hapmap]
rs2295110	1.00[MEX][hapmap]
rs28396172	0.92[EUR][1000 genomes]
rs28405326	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28434770	0.92[EUR][1000 genomes]
rs28444090	0.92[EUR][1000 genomes]
rs28473357	0.92[EUR][1000 genomes]
rs28516665	0.92[EUR][1000 genomes]
rs28701947	0.92[EUR][1000 genomes]
rs28751961	0.92[EUR][1000 genomes]
rs28757308	0.92[EUR][1000 genomes]
rs28816808	0.92[EUR][1000 genomes]
rs28833913	0.92[EUR][1000 genomes]
rs28835585	0.92[EUR][1000 genomes]
rs28847917	0.92[EUR][1000 genomes]
rs28896907	0.92[EUR][1000 genomes]
rs34700596	0.92[EUR][1000 genomes]
rs35608268	0.92[EUR][1000 genomes]
rs3742882	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs3742883	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap]
rs3742884	1.00[GIH][hapmap]
rs3742885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4569184	0.95[CHD][hapmap];0.84[JPT][hapmap]
rs4899226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899228	0.92[EUR][1000 genomes]
rs4899229	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes]
rs4902525	0.85[EUR][1000 genomes]
rs4902529	0.92[EUR][1000 genomes]
rs4902530	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4902531	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4902532	0.92[EUR][1000 genomes]
rs4902534	0.92[EUR][1000 genomes]
rs4902537	0.92[EUR][1000 genomes]
rs60014063	0.92[EUR][1000 genomes]
rs6573802	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs7140987	0.92[EUR][1000 genomes]
rs7141203	1.00[CEU][hapmap]
rs7143521	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs7145385	0.89[LWK][hapmap];1.00[MEX][hapmap]
rs7147296	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7149122	0.92[EUR][1000 genomes]
rs7149360	0.92[EUR][1000 genomes]
rs7149460	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[YRI][hapmap];0.92[EUR][1000 genomes]
rs7149669	0.89[LWK][hapmap];1.00[MEX][hapmap]
rs7149796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7150467	0.92[EUR][1000 genomes]
rs7150860	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7151035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152445	0.92[EUR][1000 genomes]
rs7152727	0.92[EUR][1000 genomes]
rs7153470	0.92[EUR][1000 genomes]
rs7154725	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap]
rs7156492	1.00[CEU][hapmap]
rs7157550	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap]
rs7157720	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[YRI][hapmap]
rs7160196	0.82[JPT][hapmap]
rs742867	0.85[GIH][hapmap]
rs8003181	0.92[EUR][1000 genomes]
rs8006089	0.95[CHD][hapmap];0.84[JPT][hapmap]
rs8006175	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[YRI][hapmap];0.92[EUR][1000 genomes]
rs8007989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008791	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[EUR][1000 genomes]
rs8010136	0.89[LWK][hapmap];1.00[MEX][hapmap]
rs8012665	1.00[CEU][hapmap]
rs8014844	0.92[EUR][1000 genomes]
rs8015427	0.86[LWK][hapmap];1.00[MEX][hapmap]
rs8015520	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs8015595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015741	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs8016246	0.92[EUR][1000 genomes]
rs8016563	0.92[EUR][1000 genomes]
rs8017718	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs8017930	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes]
rs8018029	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs8018528	0.89[LWK][hapmap];1.00[MEX][hapmap]
rs8018883	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs8019420	0.92[EUR][1000 genomes]
rs8020512	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.92[EUR][1000 genomes]
rs932475	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap]
rs957930	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs9652362	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.92[EUR][1000 genomes]
rs9652363	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap]
rs9652364	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs9672111	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[YRI][hapmap]
rs9788517	1.00[CEU][hapmap]
rs9796374	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.92[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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4902523	MYH16	trans	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68300600-68336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:68303200-68331800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:68311400-68325800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:68313200-68324400	Weak transcription	Gastric	stomach
5	chr14:68313200-68326400	Weak transcription	Pancreas	Pancrea
6	chr14:68313200-68333400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:68313200-68333800	Weak transcription	Primary T cells from cord blood	blood
8	chr14:68313400-68322200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:68313800-68324600	Weak transcription	Esophagus	oesophagus
10	chr14:68314000-68331400	Weak transcription	Dnd41	blood
11	chr14:68316600-68321600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:68316800-68321400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:68317600-68324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:68317800-68320800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:68317800-68322800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:68318000-68321200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr14:68318600-68334400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:68318800-68320800	Weak transcription	Lung	lung
19	chr14:68318800-68322800	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:68319000-68321600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr14:68319000-68327600	Weak transcription	Ovary	ovary
22	chr14:68319200-68326400	Weak transcription	Spleen	Spleen
23	chr14:68319200-68334200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr14:68319400-68321000	Active TSS	Primary B cells from cord blood	blood
25	chr14:68319800-68320800	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:68319800-68321000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr14:68320400-68324400	Weak transcription	Fetal Intestine Small	intestine
28	chr14:68320600-68320800	Flanking Active TSS	GM12878-XiMat	blood
29	chr14:68320600-68322600	Enhancers	Primary monocytes fromperipheralblood	blood

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