Variant report

Variant	rs11618108
Chromosome Location	chr13:96741862-96741863
allele	G/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	KAP1	chr13:96741744-96742420	HEK293	kidney:	n/a	n/a
2	ZNF263	chr13:96741220-96743141	HEK293-T-REx	kidney:	n/a	chr13:96742265-96742274 chr13:96742224-96742245
3	E2F4	chr13:96741744-96741879	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96705694..96707387-chr13:96740919..96743720,3	MCF-7	breast:

Variant related genes	Relation type
HS6ST3	TF binding region
ENSG00000102595	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10508027	1.00[CEU][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs11616724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11619636	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12428062	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1327640	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1330557	0.89[EUR][1000 genomes]
rs16951448	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1788062	0.88[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs1854174	0.93[ASN][1000 genomes]
rs2129006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2170813	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2257397	0.93[ASN][1000 genomes]
rs2257398	0.93[ASN][1000 genomes]
rs2262077	0.93[ASN][1000 genomes]
rs2849439	1.00[ASN][1000 genomes]
rs4547219	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773932	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs490753	0.98[ASN][1000 genomes]
rs492247	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs492744	0.93[ASN][1000 genomes]
rs493423	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495214	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs502311	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs504340	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526381	1.00[ASN][1000 genomes]
rs526702	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs531549	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs534010	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs534429	0.88[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs537463	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs539293	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs540213	0.88[CEU][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs544815	1.00[ASN][1000 genomes]
rs547858	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56077337	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs562879	1.00[ASN][1000 genomes]
rs564075	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs565297	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs565851	0.88[CEU][hapmap]
rs565898	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs568170	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568945	0.98[ASN][1000 genomes]
rs573909	0.93[ASN][1000 genomes]
rs581462	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs602540	0.93[ASN][1000 genomes]
rs626317	0.98[ASN][1000 genomes]
rs627074	1.00[ASN][1000 genomes]
rs639527	1.00[ASN][1000 genomes]
rs643302	0.83[AMR][1000 genomes]
rs645595	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs647811	1.00[ASN][1000 genomes]
rs6492833	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6492834	0.93[ASN][1000 genomes]
rs649322	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs651812	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs661544	0.89[ASN][1000 genomes]
rs662884	0.88[CEU][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs672988	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674565	0.88[CEU][hapmap]
rs675144	0.88[CEU][hapmap];0.86[GIH][hapmap]
rs680576	1.00[ASN][1000 genomes]
rs680676	0.90[ASN][1000 genomes]
rs684902	0.95[ASN][1000 genomes]
rs686672	0.95[ASN][1000 genomes]
rs688133	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7139605	0.93[ASN][1000 genomes]
rs72636570	0.91[EUR][1000 genomes]
rs72637833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72637836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72637837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72637840	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72638023	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72638024	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72638031	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7318247	0.93[ASN][1000 genomes]
rs7318449	0.93[ASN][1000 genomes]
rs7330650	0.93[ASN][1000 genomes]
rs7332078	1.00[JPT][hapmap]
rs7334320	0.88[CEU][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7338171	0.93[ASN][1000 genomes]
rs7338504	0.87[ASN][1000 genomes]
rs7339059	0.88[CEU][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7985150	0.85[ASN][1000 genomes]
rs7999737	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs816109	0.93[ASN][1000 genomes]
rs816122	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs816142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs9516621	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs9525079	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs9525134	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9525136	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv869471	chr13:96622327-97223956	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv530390	chr13:96681439-97193029	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv900936	chr13:96697209-97032483	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv1814494	chr13:96739784-96743232	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1837656	chr13:96739784-96743232	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1796846	chr13:96740247-96743122	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv1806205	chr13:96740247-96743122	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1794862	chr13:96740247-96743232	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1802553	chr13:96740247-96743232	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1803999	chr13:96740247-96743232	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1811459	chr13:96740247-96743232	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1812205	chr13:96740247-96743232	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1822504	chr13:96740247-96743232	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1834295	chr13:96740247-96743232	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv1837055	chr13:96740247-96743232	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv1843741	chr13:96740247-96743232	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv1847064	chr13:96740247-96743232	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv3512096	chr13:96741726-96744649	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv3512098	chr13:96741726-96744649	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv562780	chr13:96741862-96742681	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11618108	DZIP1	cis	parietal	SCAN
rs11618108	UGGT2	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96741600-96742400	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr13:96741600-96742600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr13:96741600-96744200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr13:96741800-96742000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:96741800-96742000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr13:96741800-96742000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
7	chr13:96741800-96742000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr13:96741800-96742000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:96741800-96742000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:96741800-96742000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:96741800-96742000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr13:96741800-96742000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:96741800-96742000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:96741800-96742000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
15	chr13:96741800-96742000	Bivalent Enhancer	Liver	Liver
16	chr13:96741800-96742000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
17	chr13:96741800-96742000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr13:96741800-96742000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr13:96741800-96742000	Flanking Bivalent TSS/Enh	Fetal Heart	heart
20	chr13:96741800-96742000	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr13:96741800-96742000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr13:96741800-96742000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr13:96741800-96742000	Bivalent Enhancer	HepG2	liver
24	chr13:96741800-96742200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr13:96741800-96742200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
26	chr13:96741800-96742200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
27	chr13:96741800-96742200	Bivalent Enhancer	Fetal Brain Male	brain
28	chr13:96741800-96742200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr13:96741800-96742400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:96741800-96742400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
31	chr13:96741800-96742400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
32	chr13:96741800-96742400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
33	chr13:96741800-96742600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
34	chr13:96741800-96742600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr13:96741800-96742600	Flanking Active TSS	Pancreas	Pancrea
36	chr13:96741800-96742600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
37	chr13:96741800-96743200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:96741800-96743400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
39	chr13:96741800-96743400	Bivalent/Poised TSS	Right Ventricle	heart
40	chr13:96741800-96743600	Active TSS	Brain Substantia Nigra	brain
41	chr13:96741800-96744000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr13:96741800-96744400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr13:96741800-96744400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr13:96741800-96744400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr13:96741800-96744600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr13:96741800-96744600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr13:96741800-96746000	Active TSS	Pancreatic Islets	Pancreatic Islet

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