Variant report

Variant	rs9675513
Chromosome Location	chr18:9116822-9116823
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	POLR2A	chr18:9116674-9117153	GM12878	blood:	n/a	n/a
2	IKZF1	chr18:9116541-9117739	GM12878	blood:	n/a	n/a
3	ZNF384	chr18:9116617-9117215	GM12878	blood:	n/a	n/a
4	POLR2A	chr18:9116744-9117206	GM12892	blood:	n/a	n/a
5	NFIC	chr18:9116576-9117833	GM12878	blood:	n/a	n/a
6	POLR2A	chr18:9116109-9117767	HepG2	liver:	n/a	n/a
7	MTA3	chr18:9116678-9117798	GM12878	blood:	n/a	n/a
8	POLR2A	chr18:9116814-9116932	K562	blood:	n/a	n/a
9	BCLAF1	chr18:9116716-9117690	GM12878	blood:	n/a	chr18:9116893-9116902
10	FOXM1	chr18:9116809-9117779	GM12878	blood:	n/a	n/a
11	ATF2	chr18:9116695-9117756	GM12878	blood:	n/a	n/a
12	FOXM1	chr18:9116553-9117732	GM12878	blood:	n/a	n/a
13	MEF2A	chr18:9116773-9117787	GM12878	blood:	n/a	n/a
14	FOXA1	chr18:9116621-9116957	HepG2	liver:	n/a	n/a
15	POLR2A	chr18:9116800-9117680	GM12891	blood:	n/a	n/a
16	POLR2A	chr18:9116721-9116890	HepG2	liver:	n/a	n/a
17	MEF2A	chr18:9116763-9117696	GM12878	blood:	n/a	n/a
18	RUNX3	chr18:9116649-9117742	GM12878	blood:	n/a	chr18:9116829-9116844
19	RUNX3	chr18:9116590-9117760	GM12878	blood:	n/a	chr18:9116829-9116844
20	CBX3	chr18:9116655-9117778	HCT-116	colon:	n/a	n/a
21	POLR2A	chr18:9116710-9117737	GM12878	blood:	n/a	n/a
22	WRNIP1	chr18:9116798-9116964	GM12878	blood:	n/a	n/a
23	POLR2A	chr18:9116382-9117777	GM12892	blood:	n/a	n/a
24	NFIC	chr18:9116382-9117839	GM12878	blood:	n/a	n/a
25	STAT1	chr18:9116750-9116931	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9115829..9117482-chr18:9134395..9136348,2	MCF-7	breast:

Variant related genes	Relation type
NDUFV2	TF binding region
ENSG00000263847	TF binding region
ENSG00000101745	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1046483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs10502391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs11659948	0.93[JPT][hapmap]
rs12326829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs13381849	0.87[YRI][hapmap]
rs1443597	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs1443598	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs16954886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes]
rs16954905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes]
rs16954914	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs17413344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497377	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17498752	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.80[EUR][1000 genomes]
rs17498969	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs17499116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs1899668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes]
rs2120316	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs2298548	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs2377962	1.00[CEU][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28520663	0.80[EUR][1000 genomes]
rs28578690	0.81[ASN][1000 genomes]
rs28619483	0.80[EUR][1000 genomes]
rs2864515	0.80[EUR][1000 genomes]
rs2864527	1.00[YRI][hapmap]
rs3213925	0.80[EUR][1000 genomes]
rs3744822	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs3744823	0.80[EUR][1000 genomes]
rs4356535	0.80[EUR][1000 genomes]
rs4449017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs4490062	0.80[EUR][1000 genomes]
rs5011606	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs56996721	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs57716132	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58350342	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs59018067	0.80[EUR][1000 genomes]
rs59616258	0.80[EUR][1000 genomes]
rs59633812	0.80[EUR][1000 genomes]
rs59983698	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60119987	0.80[EUR][1000 genomes]
rs60143204	0.84[EUR][1000 genomes]
rs60354371	0.80[EUR][1000 genomes]
rs7229105	0.84[EUR][1000 genomes]
rs7235358	0.80[EUR][1000 genomes]
rs72935229	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935248	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935253	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935260	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935263	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935265	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935266	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935267	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935274	0.87[EUR][1000 genomes]
rs72937244	0.84[EUR][1000 genomes]
rs72937245	0.84[EUR][1000 genomes]
rs72937248	0.84[EUR][1000 genomes]
rs72937250	0.84[EUR][1000 genomes]
rs72937257	0.81[EUR][1000 genomes]
rs72937258	0.80[EUR][1000 genomes]
rs72937259	0.80[EUR][1000 genomes]
rs72937263	0.80[EUR][1000 genomes]
rs72937267	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72937270	0.80[EUR][1000 genomes]
rs72937287	0.80[EUR][1000 genomes]
rs72937291	0.80[EUR][1000 genomes]
rs72937297	0.80[EUR][1000 genomes]
rs72937301	0.80[EUR][1000 genomes]
rs72939207	0.80[EUR][1000 genomes]
rs72939211	0.80[EUR][1000 genomes]
rs72939216	0.84[AFR][1000 genomes]
rs72939219	0.80[EUR][1000 genomes]
rs72939220	0.80[EUR][1000 genomes]
rs72939221	0.80[EUR][1000 genomes]
rs72939224	0.80[EUR][1000 genomes]
rs72939227	0.80[EUR][1000 genomes]
rs72939230	0.80[EUR][1000 genomes]
rs72939231	0.80[EUR][1000 genomes]
rs72939232	0.80[EUR][1000 genomes]
rs72939235	0.80[EUR][1000 genomes]
rs72939239	0.80[EUR][1000 genomes]
rs7505002	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7506375	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes]
rs7506561	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8094979	0.87[EUR][1000 genomes]
rs8098544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs8099583	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9652921	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9748485	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr18:9103800-9117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:9104400-9117000	Weak transcription	Lung	lung
3	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:9106200-9117000	Enhancers	Colon Smooth Muscle	Colon
5	chr18:9106200-9123200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:9107600-9123200	Weak transcription	Thymus	Thymus
9	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
10	chr18:9108000-9117400	Weak transcription	Fetal Kidney	kidney
11	chr18:9108200-9123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:9108200-9127200	Weak transcription	Fetal Brain Female	brain
13	chr18:9109600-9117000	Weak transcription	Brain Germinal Matrix	brain
14	chr18:9109600-9117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr18:9109600-9123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:9110200-9117400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:9110600-9118200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr18:9111200-9117400	Weak transcription	Fetal Intestine Large	intestine
19	chr18:9111200-9117600	Weak transcription	Fetal Lung	lung
20	chr18:9111200-9125400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:9111600-9126800	Weak transcription	Colonic Mucosa	Colon
22	chr18:9111800-9123400	Weak transcription	Fetal Stomach	stomach
23	chr18:9112000-9117800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:9112400-9118400	Enhancers	Liver	Liver
25	chr18:9113000-9117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:9113000-9119800	Enhancers	Brain Hippocampus Middle	brain
27	chr18:9113200-9117400	Enhancers	HepG2	liver
28	chr18:9113400-9118800	Genic enhancers	K562	blood
29	chr18:9113600-9117400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr18:9113800-9117200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr18:9114000-9117000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:9114000-9118200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr18:9114000-9118400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr18:9114000-9119600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr18:9114000-9121000	Weak transcription	Fetal Muscle Leg	muscle
36	chr18:9114000-9123200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr18:9114000-9123400	Weak transcription	Fetal Intestine Small	intestine
38	chr18:9114000-9127400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:9114000-9130800	Weak transcription	Ovary	ovary
40	chr18:9114600-9118200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr18:9114800-9117200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr18:9114800-9117400	Enhancers	NHDF-Ad	bronchial
43	chr18:9114800-9118000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:9115000-9117400	Enhancers	HUVEC	blood vessel
45	chr18:9115400-9117000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr18:9115400-9117200	Enhancers	NHEK	skin
47	chr18:9115400-9117800	Enhancers	A549	lung
48	chr18:9115400-9134600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:9115600-9117000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr18:9115600-9117200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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