Variant report

Variant	rs6499244
Chromosome Location	chr16:69735271-69735272
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69734561..69737941-chr16:69738671..69742586,5	MCF-7	breast:
2	chr16:69730582..69733142-chr16:69733941..69736017,2	K562	blood:

Variant related genes	Relation type
ENSG00000238683	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10852461	0.81[CEU][hapmap]
rs11075732	0.81[EUR][1000 genomes]
rs11075744	0.84[CEU][hapmap]
rs11640319	0.89[YRI][hapmap]
rs12446197	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs12598642	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs12599391	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12918548	0.81[AFR][1000 genomes]
rs12924052	0.85[YRI][hapmap]
rs13330951	0.90[JPT][hapmap]
rs1364063	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs1437134	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469908	0.89[YRI][hapmap]
rs1500337	0.85[CEU][hapmap]
rs1566453	0.85[CEU][hapmap]
rs1566454	0.85[CEU][hapmap]
rs2161630	0.89[YRI][hapmap]
rs2291959	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs2362642	0.82[CEU][hapmap]
rs244415	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs244417	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs244418	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs244420	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2917670	0.89[YRI][hapmap]
rs2917677	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2937121	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs35808754	0.85[EUR][1000 genomes]
rs3790075	0.85[CEU][hapmap]
rs3790076	0.85[CEU][hapmap]
rs3790080	0.85[CEU][hapmap]
rs3848278	0.89[YRI][hapmap]
rs4146819	0.81[CEU][hapmap]
rs45488899	0.83[AFR][1000 genomes]
rs4633710	0.83[YRI][hapmap]
rs4783721	0.96[CEU][hapmap]
rs55780735	0.81[AFR][1000 genomes]
rs6499240	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499263	0.85[CEU][hapmap]
rs6499268	0.85[CEU][hapmap]
rs6499270	0.81[CEU][hapmap]
rs669696	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7187634	0.89[YRI][hapmap]
rs7191292	0.89[YRI][hapmap]
rs7192380	0.89[YRI][hapmap]
rs7196842	0.81[CEU][hapmap]
rs7359336	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8048550	0.82[CEU][hapmap]
rs8049728	0.89[YRI][hapmap]
rs8050414	0.89[CEU][hapmap]
rs8055756	0.89[YRI][hapmap]
rs8061052	0.90[YRI][hapmap]
rs862320	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs889398	0.92[CEU][hapmap];0.90[JPT][hapmap]
rs889399	0.93[CEU][hapmap];0.91[JPT][hapmap]
rs9940315	0.89[CEU][hapmap];1.00[JPT][hapmap]

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	nsv906822	chr16:69711533-69745145	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	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
3	esv3396845	chr16:69721905-69770627	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr16:69701800-69739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:69704600-69737800	Strong transcription	Liver	Liver
3	chr16:69708800-69739600	Strong transcription	Placenta	Placenta
4	chr16:69709000-69739400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:69709400-69755400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:69709800-69737000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:69710000-69737400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:69715200-69737800	Strong transcription	HepG2	liver
9	chr16:69722400-69737200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr16:69722600-69738800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:69722800-69739400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr16:69723600-69736200	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr16:69723800-69739200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:69724600-69738400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:69724800-69736600	Strong transcription	Adipose Nuclei	Adipose
16	chr16:69726000-69755800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:69726600-69738800	Strong transcription	HSMM	muscle
18	chr16:69726600-69759800	Weak transcription	Psoas Muscle	Psoas
19	chr16:69726800-69737200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:69726800-69739000	Strong transcription	GM12878-XiMat	blood
21	chr16:69726800-69747600	Weak transcription	Fetal Heart	heart
22	chr16:69727600-69737800	Weak transcription	Right Atrium	heart
23	chr16:69728200-69746200	Weak transcription	Stomach Mucosa	stomach
24	chr16:69728200-69758600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:69728400-69740200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:69728400-69744200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:69728400-69748800	Weak transcription	Gastric	stomach
28	chr16:69728400-69759200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:69728600-69752000	Weak transcription	Fetal Brain Male	brain
30	chr16:69729200-69737000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:69729200-69739800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:69729200-69745000	Weak transcription	Spleen	Spleen
33	chr16:69729400-69741400	Weak transcription	Lung	lung
34	chr16:69729400-69741600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:69729400-69743600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr16:69729400-69744800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr16:69729400-69745000	Weak transcription	Pancreas	Pancrea
38	chr16:69729400-69760000	Weak transcription	Brain Germinal Matrix	brain
39	chr16:69729400-69760000	Weak transcription	Ovary	ovary
40	chr16:69729600-69735400	Weak transcription	Colon Smooth Muscle	Colon
41	chr16:69729600-69739200	Weak transcription	Fetal Intestine Small	intestine
42	chr16:69729600-69739200	Weak transcription	Fetal Stomach	stomach
43	chr16:69729600-69740800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:69729600-69745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:69729800-69746200	Weak transcription	Aorta	Aorta
46	chr16:69729800-69746200	Weak transcription	Left Ventricle	heart
47	chr16:69729800-69748800	Weak transcription	Esophagus	oesophagus
48	chr16:69730000-69739400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:69730000-69740600	Weak transcription	Small Intestine	intestine
50	chr16:69730000-69743400	Weak transcription	Brain Cingulate Gyrus	brain

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