Variant report

Variant	rs2902830
Chromosome Location	chr16:70776582-70776583
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	NFYB	chr16:70776361-70777417	K562	blood:	n/a	chr16:70776907-70776922 chr16:70776861-70776876

No.	Distal block	Cell Line	Cell type
1	chr16:70716873..70722425-chr16:70770832..70776787,8	MCF-7	breast:
2	chr16:70769869..70777910-chr16:70778144..70784375,13	MCF-7	breast:
3	chr16:70775857..70777622-chr16:70780014..70781795,2	K562	blood:
4	chr16:70731044..70733238-chr16:70775632..70778039,2	MCF-7	breast:
5	chr16:70774377..70777622-chr16:70778697..70781514,4	K562	blood:
6	chr16:70716857..70722605-chr16:70776377..70783146,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260156	TF binding region
ENSG00000260156	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12149236	0.88[ASN][1000 genomes]
rs16970484	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16970513	1.00[CEU][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17248914	1.00[CEU][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs17307409	1.00[JPT][hapmap]
rs2290614	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3743988	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3760118	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs3785421	0.97[ASN][1000 genomes]
rs4985364	0.92[CEU][hapmap]
rs4985423	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs60028268	0.94[ASN][1000 genomes]
rs6499335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499336	0.84[CEU][hapmap]
rs7185187	0.83[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7185921	1.00[CEU][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7188712	0.91[CEU][hapmap]
rs7190561	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7194091	1.00[CEU][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs7203578	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs7205738	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs74024449	0.80[EUR][1000 genomes]
rs8052615	0.86[MEX][hapmap]
rs8060947	0.92[CEU][hapmap]
rs9939763	1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
5	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70754400-70776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70754400-70780000	Weak transcription	Hela-S3	cervix
3	chr16:70760000-70784200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:70761200-70777600	Weak transcription	K562	blood
5	chr16:70762200-70778200	Weak transcription	Ovary	ovary
6	chr16:70762400-70779600	Weak transcription	Aorta	Aorta
7	chr16:70770200-70776600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr16:70770600-70777200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr16:70771000-70776600	Enhancers	Liver	Liver
10	chr16:70771200-70782000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:70771400-70783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:70772000-70776600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr16:70772000-70776600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:70772200-70776600	Genic enhancers	Spleen	Spleen
15	chr16:70772200-70777800	Weak transcription	Psoas Muscle	Psoas
16	chr16:70772200-70778000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:70772400-70777200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:70772400-70777400	Weak transcription	Primary B cells from cord blood	blood
19	chr16:70772400-70778200	Strong transcription	Fetal Intestine Large	intestine
20	chr16:70772400-70778800	Weak transcription	Stomach Mucosa	stomach
21	chr16:70772400-70783000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:70772600-70777400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:70772600-70777400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr16:70772600-70779600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:70772600-70813400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr16:70772800-70778400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:70773000-70776600	Weak transcription	Brain Anterior Caudate	brain
28	chr16:70773000-70776800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:70773000-70777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:70773000-70777600	Weak transcription	Left Ventricle	heart
31	chr16:70773000-70777600	Weak transcription	Small Intestine	intestine
32	chr16:70773000-70779400	Weak transcription	Brain Angular Gyrus	brain
33	chr16:70773000-70779600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr16:70773000-70805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr16:70773200-70777400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:70773200-70779600	Weak transcription	Colon Smooth Muscle	Colon
38	chr16:70773200-70780000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:70773400-70777400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:70773400-70816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr16:70773600-70777400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr16:70773800-70779600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:70774200-70776600	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr16:70774200-70776600	Genic enhancers	Lung	lung
45	chr16:70774200-70778800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr16:70774200-70779400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:70774200-70780600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:70774400-70776800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:70774400-70779200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr16:70774600-70779000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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