Variant report

Variant	rs1110689
Chromosome Location	chr16:77619533-77619534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:77619466..77621855-chr16:77621914..77626371,4	MCF-7	breast:
2	chr16:77617063..77620231-chr16:77635961..77639482,4	MCF-7	breast:
3	chr16:77269962..77270537-chr16:77619167..77620058,2	MCF-7	breast:
4	chr16:77618149..77620811-chr16:77638039..77640626,2	MCF-7	breast:
5	chr16:77619040..77621294-chr16:77626377..77629005,2	MCF-7	breast:
6	chr16:77268739..77270665-chr16:77617701..77619651,69	MCF-7	breast:
7	chr16:77618368..77620113-chr16:77693748..77695802,3	MCF-7	breast:
8	chr16:77619452..77621182-chr16:77622487..77625423,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261154	Chromatin interaction
ENSG00000260922	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11150002	0.86[ASN][1000 genomes]
rs11865581	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16946026	0.86[ASN][1000 genomes]
rs16946029	0.86[ASN][1000 genomes]
rs16946036	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs2170954	0.86[ASN][1000 genomes]
rs2170955	0.86[ASN][1000 genomes]
rs2170956	0.87[ASN][1000 genomes]
rs2344143	0.86[ASN][1000 genomes]
rs2344144	0.80[ASN][1000 genomes]
rs2344145	0.86[ASN][1000 genomes]
rs2344146	0.86[ASN][1000 genomes]
rs34693728	0.95[ASN][1000 genomes]
rs365413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs373509	0.80[ASN][1000 genomes]
rs373875	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs376435	0.82[ASN][1000 genomes]
rs377023	0.89[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs383449	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs386853	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs389812	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs389977	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs399696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs402964	0.80[ASN][1000 genomes]
rs404210	0.80[ASN][1000 genomes]
rs406628	0.89[TSI][hapmap]
rs408052	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.81[LWK][hapmap];0.97[ASN][1000 genomes]
rs409408	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs413012	0.82[ASN][1000 genomes]
rs415498	0.85[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs433670	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs439312	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs440857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs440918	0.82[ASN][1000 genomes]
rs441473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs451791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs453078	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs453580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs454778	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4638597	0.86[ASN][1000 genomes]
rs5026703	0.86[ASN][1000 genomes]
rs5026704	0.86[ASN][1000 genomes]
rs5026705	0.86[ASN][1000 genomes]
rs5026706	0.83[ASN][1000 genomes]
rs5026708	0.85[ASN][1000 genomes]
rs625956	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs627237	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6564451	0.86[ASN][1000 genomes]
rs6564452	0.90[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs6564454	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs6564455	0.86[ASN][1000 genomes]
rs669263	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs669303	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs669762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7184320	0.86[ASN][1000 genomes]
rs7186410	0.81[GIH][hapmap]
rs7200196	0.86[ASN][1000 genomes]
rs7200401	0.86[ASN][1000 genomes]
rs8047025	0.81[ASN][1000 genomes]
rs8047499	0.81[ASN][1000 genomes]
rs8047703	0.81[ASN][1000 genomes]
rs8048204	0.86[ASN][1000 genomes]
rs8052669	0.86[ASN][1000 genomes]
rs8052899	0.86[ASN][1000 genomes]
rs8055153	0.86[ASN][1000 genomes]
rs8056274	0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs8057657	0.86[ASN][1000 genomes]
rs8059388	0.86[ASN][1000 genomes]
rs9806807	0.81[CEU][hapmap]
rs9935398	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1059194	chr16:77281068-77745928	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv542969	chr16:77281068-77745928	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1061875	chr16:77451850-78003403	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv906957	chr16:77457066-77643421	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv869119	chr16:77458671-78008053	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv521833	chr16:77516263-77819441	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv906958	chr16:77535643-77684529	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv532564	chr16:77549380-78143752	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv1057595	chr16:77574148-77898842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv833291	chr16:77593616-77627962	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv906959	chr16:77608310-77657120	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1060068	chr16:77615499-78353775	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1110689	CNTNAP4	cis	cerebellum	SCAN
rs1110689	LDHD	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77609400-77626600	Weak transcription	Right Atrium	heart
2	chr16:77616600-77619800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:77616600-77624400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:77617200-77619600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr16:77617200-77621800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:77617400-77620600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:77618000-77620600	Enhancers	A549	lung
8	chr16:77618200-77621400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:77618800-77620000	Weak transcription	Adipose Nuclei	Adipose
10	chr16:77619200-77619600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:77619200-77619600	Enhancers	HUVEC	blood vessel
12	chr16:77619200-77620200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:77619200-77620200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:77619400-77619600	Enhancers	Primary hematopoietic stem cells	blood
15	chr16:77619400-77619800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:77619400-77619800	Flanking Active TSS	NH-A	brain
17	chr16:77619400-77620000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr16:77619400-77620000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:77619400-77620200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr16:77619400-77620200	Enhancers	NHEK	skin
21	chr16:77619400-77620800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:77619400-77621000	Enhancers	HMEC	breast
23	chr16:77619400-77622000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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