Variant report

Variant	rs74017511
Chromosome Location	chr16:31712851-31712852
allele	C/G
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	NFIC	chr16:31712350-31712890	GM12878	blood:	n/a	n/a
2	RCOR1	chr16:31711727-31713112	GM12878	blood:	n/a	n/a
3	TCF7L2	chr16:31712396-31713103	HepG2	liver:	n/a	n/a
4	RELA	chr16:31711767-31713199	GM19099	blood:	n/a	n/a
5	EP300	chr16:31711741-31712957	GM12878	blood:	n/a	chr16:31712090-31712106 chr16:31712901-31712915 chr16:31712905-31712914
6	MYBL2	chr16:31711564-31712919	HepG2	liver:	n/a	n/a
7	STAT3	chr16:31711607-31713041	GM12878	blood:	n/a	chr16:31712682-31712693
8	RELA	chr16:31711744-31712919	GM18951	blood:	n/a	n/a
9	RELA	chr16:31711666-31713127	GM12878	blood:	n/a	n/a
10	CUX1	chr16:31712315-31713100	GM12878	blood:	n/a	n/a
11	RUNX3	chr16:31711702-31712879	GM12878	blood:	n/a	n/a
12	WRNIP1	chr16:31712333-31713427	GM12878	blood:	n/a	n/a
13	FOXA1	chr16:31712221-31712875	HepG2	liver:	n/a	n/a
14	POLR2A	chr16:31711601-31712851	HepG2	liver:	n/a	n/a
15	SPI1	chr16:31712804-31713044	GM12891	blood:	n/a	chr16:31712904-31712917 chr16:31712901-31712910
16	EP300	chr16:31711631-31712914	GM12878	blood:	n/a	chr16:31711651-31711659 chr16:31712090-31712106 chr16:31712905-31712914
17	RELA	chr16:31711849-31712969	GM18526	blood:	n/a	n/a
18	CHD2	chr16:31711669-31712877	GM12878	blood:	n/a	n/a
19	MYBL2	chr16:31711631-31713307	HepG2	liver:	n/a	n/a
20	NRF1	chr16:31712596-31713398	GM12878	blood:	n/a	n/a
21	RELA	chr16:31711664-31712991	GM19193	blood:	n/a	n/a
22	POLR2A	chr16:31711671-31712921	GM12878	blood:	n/a	n/a
23	SPI1	chr16:31712740-31713062	GM12878	blood:	n/a	chr16:31712904-31712917 chr16:31712901-31712910
24	FOXA2	chr16:31712083-31712926	HepG2	liver:	n/a	n/a
25	RELA	chr16:31711719-31713049	GM12891	blood:	n/a	n/a
26	RELA	chr16:31712331-31713153	GM10847	blood:	n/a	n/a
27	GATA1	chr16:31711663-31712959	PBDE	blood:	n/a	chr16:31712903-31712913
28	EP300	chr16:31711659-31712857	HepG2	liver:	n/a	chr16:31712090-31712106
29	RUNX3	chr16:31711621-31712946	GM12878	blood:	n/a	n/a
30	POLR2A	chr16:31711574-31713481	HepG2	liver:	n/a	n/a
31	FOXM1	chr16:31712415-31712863	GM12878	blood:	n/a	n/a
32	ZEB1	chr16:31711457-31713523	HepG2	liver:	n/a	chr16:31711771-31711782
33	POLR2A	chr16:31711595-31712900	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31517989..31521434-chr16:31710261..31713968,8	MCF-7	breast:
2	chr16:31466906..31472700-chr16:31708858..31713293,7	K562	blood:
3	chr16:31467446..31470732-chr16:31710400..31715735,8	MCF-7	breast:
4	chr16:31462018..31465168-chr16:31706757..31713127,6	MCF-7	breast:
5	chr16:31467289..31472159-chr16:31708858..31713201,6	K562	blood:
6	chr16:31468309..31472565-chr16:31709404..31716221,13	MCF-7	breast:
7	chr16:31518205..31521975-chr16:31709546..31713435,8	MCF-7	breast:
8	chr16:31084135..31087518-chr16:31711748..31714825,3	MCF-7	breast:
9	chr16:31711865..31714581-chr16:31881690..31883987,3	MCF-7	breast:
10	chr16:31711697..31713658-chr16:31714336..31716806,2	MCF-7	breast:

Variant related genes	Relation type
CLUHP3	TF binding region
ENSG00000260568	TF binding region
ENSG00000260472	TF binding region
ENSG00000260625	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000259874	Chromatin interaction
ENSG00000261474	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1354994	1.00[AMR][1000 genomes]
rs1395526	1.00[AMR][1000 genomes]
rs1876507	1.00[AMR][1000 genomes]
rs3905907	1.00[AMR][1000 genomes]
rs3913869	1.00[AMR][1000 genomes]
rs4889561	1.00[AMR][1000 genomes]
rs55771542	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55801950	1.00[AMR][1000 genomes]
rs56007329	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56279146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58461706	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61467517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565283	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565292	1.00[AMR][1000 genomes]
rs7193710	1.00[AMR][1000 genomes]
rs74015561	1.00[AMR][1000 genomes]
rs74017509	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017517	1.00[AMR][1000 genomes]
rs74017519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017525	0.83[AFR][1000 genomes]
rs74017527	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017528	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017534	1.00[AMR][1000 genomes]
rs8044900	1.00[AMR][1000 genomes]
rs8047836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049984	1.00[AMR][1000 genomes]
rs8050055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050193	1.00[AMR][1000 genomes]
rs8050428	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050437	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8052997	1.00[AMR][1000 genomes]
rs8055446	1.00[AMR][1000 genomes]
rs8057397	1.00[AMR][1000 genomes]
rs8062868	1.00[AMR][1000 genomes]
rs9928474	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1057598	chr16:31608831-31726446	Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 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	chr16:31711400-31713000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr16:31711400-31713200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:31711400-31713200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr16:31711400-31713400	Active TSS	Fetal Kidney	kidney
5	chr16:31711600-31713000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr16:31711600-31713000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:31711600-31713000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr16:31711600-31713000	Active TSS	Brain Angular Gyrus	brain
9	chr16:31711600-31713000	Active TSS	Brain Cingulate Gyrus	brain
10	chr16:31711600-31713000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr16:31711600-31713000	Active TSS	Right Atrium	heart
12	chr16:31711600-31713000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr16:31711600-31713200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr16:31711600-31713200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr16:31711600-31713200	Active TSS	Brain Anterior Caudate	brain
16	chr16:31711600-31713200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr16:31711600-31713200	Flanking Bivalent TSS/Enh	Dnd41	blood
18	chr16:31711600-31713400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr16:31711600-31713400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr16:31711600-31713400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:31711600-31713400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:31711800-31713000	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr16:31711800-31713000	Active TSS	Fetal Intestine Large	intestine
24	chr16:31711800-31713200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr16:31711800-31713400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:31711800-31713400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr16:31712000-31713200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr16:31712200-31713000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr16:31712200-31713200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:31712200-31713200	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr16:31712400-31713000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:31712400-31713000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr16:31712400-31713000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:31712400-31713000	Flanking Active TSS	Fetal Stomach	stomach
35	chr16:31712400-31713000	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr16:31712400-31713000	Weak transcription	Spleen	Spleen
37	chr16:31712400-31713000	Flanking Active TSS	K562	blood
38	chr16:31712400-31713200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr16:31712400-31713200	Enhancers	Fetal Heart	heart
40	chr16:31712400-31713200	Flanking Active TSS	Hela-S3	cervix
41	chr16:31712400-31713400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr16:31712400-31713400	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr16:31712400-31714400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:31712600-31713000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr16:31712600-31713200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:31712600-31713200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:31712600-31713200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr16:31712600-31713200	Flanking Active TSS	Fetal Brain Female	brain
49	chr16:31712600-31713200	Weak transcription	Gastric	stomach
50	chr16:31712600-31713200	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links