Variant report

Variant	rs12386916
Chromosome Location	chr8:95273529-95273530
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	chr8:95264764-95275103	IMR90	lung:	n/a	n/a
2	POLR2A	chr8:95270042-95274844	HCT-116	colon:	n/a	n/a
3	POLR2A	chr8:95272370-95274824	PBDE	blood:	n/a	n/a
4	TCF12	chr8:95270994-95273694	SK-N-SH	brain:	n/a	chr8:95273143-95273153
5	POLR2A	chr8:95270203-95274737	U87	brain:	n/a	n/a
6	CHD1	chr8:95269601-95275342	IMR90	lung:	n/a	n/a
7	MXI1	chr8:95271947-95275039	IMR90	lung:	n/a	n/a
8	POLR2A	chr8:95273440-95274786	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:95264619-95274882	U87	brain:	n/a	n/a
10	RELA	chr8:95273498-95274933	GM12891	blood:	n/a	n/a
11	POLR2A	chr8:95269480-95274882	U87	brain:	n/a	n/a
12	POLR2A	chr8:95273454-95274757	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GEM	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16916642	0.86[AFR][1000 genomes]
rs16916672	0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17734778	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17847127	0.84[AFR][1000 genomes]
rs17847131	0.84[AFR][1000 genomes]
rs1872888	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4734273	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4734274	0.88[YRI][hapmap];0.88[AFR][1000 genomes]
rs4735278	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4735279	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4735281	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs58260930	0.84[AFR][1000 genomes]

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	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1022382	chr8:95261955-95283587	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1023617	chr8:95261955-95284414	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
11	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95259600-95274000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:95263000-95273800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:95263000-95273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:95264800-95273600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:95267800-95274000	Weak transcription	Gastric	stomach
6	chr8:95269600-95273600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:95269800-95274000	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
8	chr8:95270200-95273800	Enhancers	HSMM	muscle
9	chr8:95270200-95274800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr8:95270200-95275000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:95270400-95273600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:95270600-95273600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:95270600-95273800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:95270600-95274800	Active TSS	Brain Anterior Caudate	brain
15	chr8:95271000-95273600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:95271000-95274800	Active TSS	Brain Cingulate Gyrus	brain
17	chr8:95271200-95274800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr8:95271200-95274800	Active TSS	Brain Substantia Nigra	brain
19	chr8:95271600-95273600	Weak transcription	Fetal Kidney	kidney
20	chr8:95271600-95273800	Flanking Active TSS	HMEC	breast
21	chr8:95271600-95273800	Flanking Active TSS	Osteobl	bone
22	chr8:95271600-95274800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:95271800-95273800	Enhancers	NHEK	skin
24	chr8:95271800-95275000	Active TSS	Colonic Mucosa	Colon
25	chr8:95272000-95274000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:95272200-95273600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:95272400-95273800	Enhancers	Brain Germinal Matrix	brain
28	chr8:95272400-95273800	Weak transcription	HUVEC	blood vessel
29	chr8:95272400-95274000	Active TSS	Lung	lung
30	chr8:95272600-95273800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:95272600-95274000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:95272600-95274000	Enhancers	Placenta	Placenta
33	chr8:95272600-95274000	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:95272600-95274600	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr8:95272600-95274800	Active TSS	Brain Angular Gyrus	brain
36	chr8:95272600-95275000	Active TSS	Esophagus	oesophagus
37	chr8:95272800-95273600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:95272800-95273600	Flanking Active TSS	Fetal Heart	heart
39	chr8:95272800-95273600	Flanking Active TSS	Fetal Stomach	stomach
40	chr8:95272800-95274000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:95272800-95274000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr8:95272800-95274000	Weak transcription	Spleen	Spleen
43	chr8:95272800-95274200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr8:95272800-95274800	Active TSS	Fetal Brain Female	brain
45	chr8:95272800-95275000	Active TSS	Ovary	ovary
46	chr8:95273000-95273800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:95273000-95273800	Flanking Active TSS	GM12878-XiMat	blood
48	chr8:95273000-95274200	Active TSS	Stomach Smooth Muscle	stomach
49	chr8:95273000-95274400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:95273000-95274800	Active TSS	Duodenum Smooth Muscle	Duodenum

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