Variant report

Variant	rs6499313
Chromosome Location	chr16:70478179-70478180
allele	A/G
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: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11859191	1.00[EUR][1000 genomes]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863943	1.00[EUR][1000 genomes]
rs11864179	1.00[EUR][1000 genomes]
rs11865368	1.00[AMR][1000 genomes]
rs11865484	1.00[EUR][1000 genomes]
rs11865564	1.00[EUR][1000 genomes]
rs11865863	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs11866628	1.00[AMR][1000 genomes]
rs11867150	0.91[YRI][hapmap]
rs13335135	1.00[ASW][hapmap]
rs16970121	1.00[EUR][1000 genomes]
rs16970147	1.00[EUR][1000 genomes]
rs16970154	0.82[YRI][hapmap]
rs16970191	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs16970302	1.00[EUR][1000 genomes]
rs16970331	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970335	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17878609	1.00[EUR][1000 genomes]
rs17878832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17879608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880242	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17880392	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881069	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17881219	1.00[EUR][1000 genomes]
rs17882800	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17885493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17886064	1.00[EUR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	1.00[EUR][1000 genomes]
rs3852697	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3852698	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4999489	1.00[AMR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	1.00[EUR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55936739	1.00[EUR][1000 genomes]
rs56050266	1.00[EUR][1000 genomes]
rs56082018	1.00[EUR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57422630	1.00[EUR][1000 genomes]
rs58047061	1.00[EUR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	1.00[EUR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs61319691	1.00[EUR][1000 genomes]
rs6499312	1.00[EUR][1000 genomes]
rs6499314	1.00[EUR][1000 genomes]
rs6499315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499316	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499319	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187719	1.00[AMR][1000 genomes]
rs7188864	1.00[EUR][1000 genomes]
rs7190536	1.00[EUR][1000 genomes]
rs7190921	1.00[EUR][1000 genomes]
rs7192000	1.00[EUR][1000 genomes]
rs7195086	1.00[EUR][1000 genomes]
rs7196295	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198871	1.00[EUR][1000 genomes]
rs7199043	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199346	1.00[EUR][1000 genomes]
rs7199655	1.00[EUR][1000 genomes]
rs7205918	1.00[EUR][1000 genomes]
rs7206347	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]
rs74026022	1.00[EUR][1000 genomes]
rs74026033	1.00[EUR][1000 genomes]
rs74026049	1.00[EUR][1000 genomes]
rs8044110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8044956	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045571	1.00[EUR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046662	1.00[EUR][1000 genomes]
rs8046786	1.00[EUR][1000 genomes]
rs8049046	1.00[EUR][1000 genomes]
rs8053657	1.00[EUR][1000 genomes]
rs8054203	1.00[EUR][1000 genomes]
rs8056811	1.00[EUR][1000 genomes]
rs8058032	1.00[AMR][1000 genomes]
rs8062097	1.00[AMR][1000 genomes]
rs8062602	1.00[EUR][1000 genomes]
rs8064090	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70473800-70478200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:70473800-70478200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:70473800-70480600	Weak transcription	Colonic Mucosa	Colon
4	chr16:70473800-70484800	Weak transcription	Right Atrium	heart
5	chr16:70474000-70478200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:70474000-70478400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:70474000-70478400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr16:70474000-70478600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:70474000-70480800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr16:70474200-70478200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:70474200-70478400	Weak transcription	Stomach Mucosa	stomach
12	chr16:70474200-70478400	Weak transcription	GM12878-XiMat	blood
13	chr16:70474200-70479000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr16:70474200-70479000	Weak transcription	Small Intestine	intestine
15	chr16:70474400-70478200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr16:70474400-70484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:70475800-70479000	Enhancers	HepG2	liver
18	chr16:70477200-70479000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:70477200-70479200	Enhancers	Fetal Intestine Small	intestine
20	chr16:70477200-70479600	Enhancers	Fetal Intestine Large	intestine
21	chr16:70477400-70478400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:70477800-70478200	Weak transcription	K562	blood
23	chr16:70477800-70479600	Enhancers	Duodenum Mucosa	Duodenum

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