Variant report

Variant	rs6500318
Chromosome Location	chr16:47918266-47918267
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47916252..47919078-chr16:47920056..47921921,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261325	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10492847	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10521162	0.80[AMR][1000 genomes]
rs10521163	0.80[AMR][1000 genomes]
rs11076576	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11860828	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs12102746	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102755	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102942	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12102967	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103248	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103260	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330337	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13330632	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331659	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13333024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13333199	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13335407	0.91[AMR][1000 genomes]
rs13337671	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337810	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13338849	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339608	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486419	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs16942513	0.80[AMR][1000 genomes]
rs16945509	1.00[CEU][hapmap]
rs16945557	1.00[CEU][hapmap]
rs16945673	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16945694	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945716	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16945720	0.88[AMR][1000 genomes]
rs1901903	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1973217	0.83[AMR][1000 genomes]
rs2054000	0.80[AMR][1000 genomes]
rs28375672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409782	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28412153	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418647	0.82[EUR][1000 genomes]
rs28434188	0.82[EUR][1000 genomes]
rs28440861	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454787	0.82[EUR][1000 genomes]
rs28496502	0.82[EUR][1000 genomes]
rs28539472	0.82[EUR][1000 genomes]
rs28539843	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566036	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28581476	0.82[EUR][1000 genomes]
rs28589989	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28606368	0.94[EUR][1000 genomes]
rs28630392	0.82[EUR][1000 genomes]
rs28656465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679750	0.82[EUR][1000 genomes]
rs28680748	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688663	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28690829	0.82[EUR][1000 genomes]
rs28691740	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28712810	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs28715928	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28853924	0.82[EUR][1000 genomes]
rs28854517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852743	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903067	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3950354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4785551	1.00[ASN][1000 genomes]
rs55898403	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58190241	0.87[AMR][1000 genomes]
rs60201061	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60943725	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61326782	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500376	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500409	1.00[ASN][1000 genomes]
rs6598602	0.87[AMR][1000 genomes]
rs7186530	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7186924	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7187488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190225	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192029	1.00[CEU][hapmap]
rs7193023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193794	0.87[AMR][1000 genomes]
rs7193945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195074	0.87[AMR][1000 genomes]
rs7197471	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7197882	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs7198023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198908	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7199392	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes]
rs7202175	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs7205263	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205736	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728884	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536717	0.82[EUR][1000 genomes]
rs73536721	0.82[EUR][1000 genomes]
rs73536725	0.82[EUR][1000 genomes]
rs73536729	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536749	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536752	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536754	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536758	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536770	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536779	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536785	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536798	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536913	0.84[AMR][1000 genomes]
rs73539129	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539135	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539141	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7500284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044496	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8046175	0.80[AMR][1000 genomes]
rs8046482	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052294	0.80[AMR][1000 genomes]
rs8053678	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054017	0.84[AMR][1000 genomes]
rs8054264	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054582	0.87[AMR][1000 genomes]
rs8054830	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055999	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8059334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062269	0.87[AMR][1000 genomes]
rs8062495	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064036	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs876258	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs918178	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328600	0.84[AMR][1000 genomes]
rs9922381	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs9924657	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924916	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926598	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9927096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9927438	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9927787	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9931638	0.87[AMR][1000 genomes]
rs9931666	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9933191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934384	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934668	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9937177	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937514	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938346	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938516	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939949	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940448	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	27 gene(s)	inside rSNPs	diseases
2	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47913200-47920400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr16:47916000-47920200	Weak transcription	NHEK	skin
3	chr16:47917400-47918600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:47917400-47918800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:47917400-47920200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:47917600-47918800	Enhancers	HMEC	breast
7	chr16:47917600-47919600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr16:47917600-47921400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr16:47917600-47923800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr16:47917800-47919000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr16:47917800-47921200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr16:47917800-47922800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr16:47918000-47918400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:47918000-47918600	Enhancers	Brain Germinal Matrix	brain
15	chr16:47918000-47918600	Enhancers	Brain Hippocampus Middle	brain
16	chr16:47918000-47918800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:47918000-47918800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:47918000-47918800	Enhancers	Brain Angular Gyrus	brain
19	chr16:47918000-47919000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:47918000-47919400	Enhancers	Fetal Brain Male	brain
21	chr16:47918000-47922800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:47918200-47918400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr16:47918200-47918400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr16:47918200-47918400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:47918200-47918600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:47918200-47918600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:47918200-47918800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr16:47918200-47918800	Enhancers	Fetal Brain Female	brain

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