Variant report

Variant	rs4341733
Chromosome Location	chr16:69832247-69832248
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	CTCF	chr16:69832140-69832290	HPAF	blood vessel:	n/a	n/a
2	RAD21	chr16:69832225-69832958	SK-N-SH	brain:	n/a	n/a
3	SMC3	chr16:69831854-69832833	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr16:69832100-69832250	HPF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69830715..69832608-chr16:69955994..69958186,2	K562	blood:

Variant related genes	Relation type
WWP2	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11075734	0.83[LWK][hapmap];0.87[MKK][hapmap]
rs11075738	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075739	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11641521	0.83[AFR][1000 genomes]
rs11641899	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11643817	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12447095	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12447914	0.80[ASN][1000 genomes]
rs12596679	0.81[ASW][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];0.82[AFR][1000 genomes]
rs2173714	0.90[ASN][1000 genomes]
rs34378064	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3790085	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs3790086	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4275849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464069	0.87[MKK][hapmap]
rs4985374	0.80[ASN][1000 genomes]
rs4985418	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985445	0.88[ASN][1000 genomes]
rs4985446	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985518	0.81[ASW][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap]
rs55863174	0.81[AFR][1000 genomes]
rs55992518	0.81[AFR][1000 genomes]
rs56282083	0.95[AFR][1000 genomes]
rs60231938	0.95[AFR][1000 genomes]
rs60941540	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62051384	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62051387	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62051389	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499257	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499260	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68039170	0.80[ASN][1000 genomes]
rs7193221	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7194806	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7196917	0.88[CEU][hapmap]
rs7200005	0.88[CEU][hapmap]
rs7202223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7206585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73579497	0.95[AFR][1000 genomes]
rs8044920	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045682	0.81[ASW][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap]
rs8052428	0.95[CEU][hapmap]
rs8057620	0.81[CHD][hapmap]
rs8059645	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8063219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630631	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:69806800-69833000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:69807200-69832600	Weak transcription	NHLF	lung
4	chr16:69807200-69832800	Weak transcription	Pancreas	Pancrea
5	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
7	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
8	chr16:69808000-69833200	Weak transcription	HSMM	muscle
9	chr16:69810000-69839800	Weak transcription	HUVEC	blood vessel
10	chr16:69810200-69833400	Weak transcription	Dnd41	blood
11	chr16:69815200-69833400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:69817800-69854600	Weak transcription	HMEC	breast
13	chr16:69820200-69845000	Weak transcription	K562	blood
14	chr16:69822200-69833000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:69822400-69832600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:69822400-69833000	Weak transcription	HSMMtube	muscle
17	chr16:69822400-69854800	Weak transcription	Stomach Mucosa	stomach
18	chr16:69822600-69833000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:69822600-69833200	Weak transcription	Small Intestine	intestine
20	chr16:69822800-69832600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:69823000-69832600	Weak transcription	Colonic Mucosa	Colon
22	chr16:69823400-69832400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:69823800-69832600	Weak transcription	Esophagus	oesophagus
24	chr16:69823800-69832600	Weak transcription	Placenta	Placenta
25	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr16:69824000-69832600	Weak transcription	Left Ventricle	heart
27	chr16:69824000-69833000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:69824000-69833000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr16:69824000-69833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:69824200-69832600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr16:69824200-69833000	Weak transcription	Spleen	Spleen
32	chr16:69824200-69852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:69824400-69833000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr16:69824600-69832400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:69824600-69832600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:69824600-69832600	Weak transcription	Gastric	stomach
37	chr16:69826800-69832400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:69826800-69832800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:69827000-69832600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:69827000-69832600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr16:69827000-69832600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:69827000-69832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:69827000-69832600	Weak transcription	Fetal Thymus	thymus
44	chr16:69827000-69832600	Weak transcription	GM12878-XiMat	blood
45	chr16:69827000-69832800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:69827000-69832800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr16:69827000-69833400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:69827200-69832400	Weak transcription	Thymus	Thymus
49	chr16:69827600-69832600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr16:69827600-69833000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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