Variant report

Variant	rs6499314
Chromosome Location	chr16:70478424-70478425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70466259..70467878-chr16:70477117..70478752,2	K562	blood:
2	chr16:70470745..70475630-chr16:70476191..70481668,5	MCF-7	breast:
3	chr16:70471110..70472642-chr16:70476908..70478527,2	K562	blood:

Variant related genes	Relation type
ENSG00000157350	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs11537667	1.00[ASW][hapmap];0.82[MKK][hapmap];0.90[YRI][hapmap]
rs11859191	1.00[EUR][1000 genomes]
rs11859870	0.84[AMR][1000 genomes]
rs11860870	1.00[ASW][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap]
rs11861486	0.84[AMR][1000 genomes]
rs11862053	1.00[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.90[YRI][hapmap]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863943	0.91[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864179	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864326	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865484	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865564	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11866378	0.90[YRI][hapmap]
rs16970121	1.00[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970133	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs16970141	1.00[ASW][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap]
rs16970147	1.00[ASW][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970149	0.82[YRI][hapmap];0.91[AMR][1000 genomes]
rs16970151	0.91[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes]
rs16970152	0.91[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes]
rs16970153	0.82[YRI][hapmap];0.91[AMR][1000 genomes]
rs16970159	0.91[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970165	0.91[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes]
rs16970169	0.91[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970302	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16970361	1.00[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.90[YRI][hapmap]
rs16970609	1.00[ASW][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap]
rs17878609	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17879665	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17880268	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	1.00[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17882471	1.00[MEX][hapmap]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4999488	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55775924	0.91[AMR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55916527	0.91[AMR][1000 genomes]
rs55936739	1.00[EUR][1000 genomes]
rs56043981	0.81[AMR][1000 genomes]
rs56050266	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56082018	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56096542	0.81[AMR][1000 genomes]
rs56348821	0.91[AMR][1000 genomes]
rs56836664	0.84[AMR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57422630	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58047061	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58055772	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59552467	0.91[AMR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs59791510	0.81[AMR][1000 genomes]
rs60011151	0.91[AMR][1000 genomes]
rs60045805	0.84[AMR][1000 genomes]
rs60387488	0.91[AMR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs60523557	0.81[AMR][1000 genomes]
rs60646112	0.91[AMR][1000 genomes]
rs61284127	0.91[AMR][1000 genomes]
rs61319691	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61369696	0.91[AMR][1000 genomes]
rs6499312	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7184248	0.81[AMR][1000 genomes]
rs7188864	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7189535	1.00[MEX][hapmap]
rs7190536	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7190921	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs7192000	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7195086	0.91[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195104	0.82[YRI][hapmap];0.91[AMR][1000 genomes]
rs7195567	1.00[ASW][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap]
rs7198871	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7199145	1.00[MEX][hapmap];0.82[MKK][hapmap]
rs7199346	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199655	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203548	0.84[AMR][1000 genomes]
rs7203761	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs7203772	1.00[MEX][hapmap]
rs7205871	0.81[AMR][1000 genomes]
rs7205918	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7205990	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7206347	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024182	1.00[EUR][1000 genomes]
rs74024183	1.00[EUR][1000 genomes]
rs74024184	1.00[EUR][1000 genomes]
rs74024185	1.00[EUR][1000 genomes]
rs74024186	1.00[EUR][1000 genomes]
rs74024188	1.00[EUR][1000 genomes]
rs74024199	0.81[AMR][1000 genomes]
rs74024200	0.81[AMR][1000 genomes]
rs74026022	1.00[EUR][1000 genomes]
rs74026026	0.91[AMR][1000 genomes]
rs74026033	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026049	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045571	0.82[ASW][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046280	0.81[AMR][1000 genomes]
rs8046662	0.82[ASW][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs8046786	1.00[EUR][1000 genomes]
rs8049046	0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8049316	1.00[MEX][hapmap];0.82[MKK][hapmap]
rs8051869	0.81[AMR][1000 genomes]
rs8053040	0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs8053657	1.00[EUR][1000 genomes]
rs8053883	0.91[ASW][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes]
rs8054203	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8055338	1.00[MEX][hapmap];0.82[MKK][hapmap]
rs8056811	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs8058735	0.91[AMR][1000 genomes]
rs8062602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8063749	0.90[YRI][hapmap]
rs8064090	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70473800-70480600	Weak transcription	Colonic Mucosa	Colon
2	chr16:70473800-70484800	Weak transcription	Right Atrium	heart
3	chr16:70474000-70478600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:70474000-70480800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:70474200-70479000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr16:70474200-70479000	Weak transcription	Small Intestine	intestine
7	chr16:70474400-70484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:70475800-70479000	Enhancers	HepG2	liver
9	chr16:70477200-70479000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:70477200-70479200	Enhancers	Fetal Intestine Small	intestine
11	chr16:70477200-70479600	Enhancers	Fetal Intestine Large	intestine
12	chr16:70477800-70479600	Enhancers	Duodenum Mucosa	Duodenum
13	chr16:70478200-70478800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:70478200-70478800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr16:70478200-70478800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:70478200-70478800	Enhancers	K562	blood
17	chr16:70478400-70478800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:70478400-70478800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr16:70478400-70478800	Enhancers	Stomach Mucosa	stomach
20	chr16:70478400-70478800	Enhancers	GM12878-XiMat	blood
21	chr16:70478400-70484600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:70478400-70487400	Weak transcription	Rectal Mucosa Donor 29	rectum

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