Variant report

Variant	rs9934336
Chromosome Location	chr16:31495873-31495874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr16:31495762-31496251	HepG2	liver:	n/a	n/a
2	MAX	chr16:31495798-31496193	K562	blood:	n/a	n/a
3	MAFK	chr16:31495849-31496076	HepG2	liver:	n/a	n/a
4	MYC	chr16:31495873-31496128	NB4	blood:	n/a	n/a
5	ELF1	chr16:31495792-31496092	K562	blood:	n/a	n/a
6	FOSL2	chr16:31495858-31496245	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:31495863-31496223	HepG2	liver:	n/a	n/a
8	ELF1	chr16:31495824-31496197	K562	blood:	n/a	n/a
9	MYC	chr16:31495870-31495873	HepG2	liver:	n/a	n/a
10	MAX	chr16:31495740-31496672	HepG2	liver:	n/a	n/a
11	MYBL2	chr16:31495696-31496345	HepG2	liver:	n/a	n/a
12	FOXA2	chr16:31495761-31496134	HepG2	liver:	n/a	n/a
13	EP300	chr16:31495671-31496243	HepG2	liver:	n/a	n/a
14	STAT3	chr16:31495862-31496056	MCF10A-Er-Src	breast:	n/a	n/a
15	RAD21	chr16:31495793-31496253	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:31495840-31496358	HepG2	liver:	n/a	n/a
17	ELF1	chr16:31495793-31496233	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:31495806-31496188	HepG2	liver:	n/a	n/a
19	REST	chr16:31495848-31496199	HepG2	liver:	n/a	n/a
20	MXI1	chr16:31495834-31496256	HepG2	liver:	n/a	n/a
21	ELF1	chr16:31495771-31496283	HepG2	liver:	n/a	n/a
22	MAX	chr16:31495692-31496602	HepG2	liver:	n/a	n/a
23	YY1	chr16:31495863-31496267	HepG2	liver:	n/a	n/a
24	HDAC2	chr16:31495752-31496135	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:31495796-31496468	HepG2	liver:	n/a	n/a
26	TEAD4	chr16:31495650-31496369	HepG2	liver:	n/a	chr16:31495918-31495927
27	FOXA1	chr16:31495723-31496072	HepG2	liver:	n/a	n/a
28	SP1	chr16:31495687-31496220	HepG2	liver:	n/a	n/a
29	HNF4A	chr16:31495832-31496106	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31494997..31499043-chr16:31517756..31521950,4	K562	blood:
2	chr16:31493200..31498370-chr16:31536887..31540209,4	K562	blood:
3	chr16:31494438..31500083-chr16:31500912..31506203,9	K562	blood:
4	chr16:31463991..31465903-chr16:31493683..31496529,2	K562	blood:
5	chr16:31493479..31495178-chr16:31495310..31496878,2	K562	blood:
6	chr16:31468059..31475073-chr16:31494279..31502185,17	MCF-7	breast:
7	chr16:31469520..31471789-chr16:31495046..31498029,3	MCF-7	breast:
8	chr16:31494997..31497772-chr16:31517756..31520591,2	K562	blood:

No data

Variant related genes	Relation type
SLC5A2	TF binding region
ENSG00000140675	Chromatin interaction
ENSG00000169877	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000261474	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11150626	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865835	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13143	1.00[ASW][hapmap];0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.91[LWK][hapmap];0.83[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13337037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34081766	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3934739	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4519345	1.00[JPT][hapmap];0.84[YRI][hapmap]
rs4889548	1.00[JPT][hapmap]
rs4889673	1.00[JPT][hapmap]
rs6565235	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6565236	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6565242	1.00[JPT][hapmap];0.94[YRI][hapmap]
rs7188278	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs8057401	1.00[JPT][hapmap]
rs8062314	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9926717	0.96[EUR][1000 genomes]
rs9935222	1.00[JPT][hapmap]

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	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	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
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
8	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
9	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
10	nsv482193	chr16:31494439-31502091	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
11	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9934336	PRR14	cis	cerebellum	SCAN
rs9934336	AC026471.6	cis	lung	GTEx
rs9934336	SLC5A2	cis	lung	GTEx
rs9934336	INO80E	cis	parietal	SCAN
rs9934336	TAOK2	cis	parietal	SCAN
rs9934336	AHSP	cis	parietal	SCAN
rs9934336	FBXL19	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31489400-31496000	Weak transcription	NH-A	brain
2	chr16:31489400-31496200	Weak transcription	Fetal Lung	lung
3	chr16:31489400-31496200	Weak transcription	A549	lung
4	chr16:31489400-31498600	Weak transcription	Esophagus	oesophagus
5	chr16:31489400-31498600	Weak transcription	Ovary	ovary
6	chr16:31489600-31498600	Weak transcription	Left Ventricle	heart
7	chr16:31489600-31498800	Weak transcription	Aorta	Aorta
8	chr16:31490000-31498400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:31490000-31498600	Weak transcription	Liver	Liver
10	chr16:31490600-31498600	Weak transcription	Pancreas	Pancrea
11	chr16:31490800-31496000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:31492400-31497800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr16:31492400-31498600	Weak transcription	Right Atrium	heart
14	chr16:31492600-31496000	Weak transcription	Right Ventricle	heart
15	chr16:31492600-31496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:31492600-31497800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:31492600-31498600	Weak transcription	Spleen	Spleen
18	chr16:31492800-31496000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:31492800-31496000	Weak transcription	Lung	lung
20	chr16:31492800-31497800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:31493200-31496000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:31493600-31497600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:31494800-31496000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr16:31495200-31496000	Enhancers	Fetal Intestine Large	intestine
25	chr16:31495200-31496000	Enhancers	Fetal Intestine Small	intestine
26	chr16:31495600-31496600	Flanking Active TSS	HepG2	liver
27	chr16:31495800-31496000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
28	chr16:31495800-31496000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr16:31495800-31496000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr16:31495800-31496000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr16:31495800-31496000	Flanking Active TSS	Fetal Kidney	kidney
32	chr16:31495800-31496200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr16:31495800-31496200	Enhancers	HMEC	breast
34	chr16:31495800-31496200	Enhancers	K562	blood
35	chr16:31495800-31496400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr16:31495800-31496400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr16:31495800-31496400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:31495800-31496400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr16:31495800-31496400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:31495800-31496400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr16:31495800-31496400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:31495800-31496400	Enhancers	Fetal Heart	heart
43	chr16:31495800-31496600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:31495800-31496600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:31495800-31496600	Enhancers	Duodenum Mucosa	Duodenum
46	chr16:31495800-31496600	Enhancers	Gastric	stomach
47	chr16:31495800-31496600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr16:31495800-31496800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr16:31495800-31497000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr16:31495800-31498200	Enhancers	Colonic Mucosa	Colon

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