Variant report

Variant	rs748324
Chromosome Location	chr8:99024079-99024080
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	RCOR1	chr8:99023858-99024147	Hela-S3	cervix:	n/a	n/a
2	EP300	chr8:99022726-99024445	SK-N-SH	brain:	n/a	chr8:99022797-99022811 chr8:99022795-99022804
3	CEBPB	chr8:99023586-99024104	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:99023619-99024231	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr8:99023189-99024958	IMR90	lung:	n/a	n/a
6	TCF12	chr8:99023636-99024301	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr8:99023640-99024252	SK-N-SH	brain:	n/a	chr8:99023920-99023937 chr8:99023920-99023936
8	FOS	chr8:99023915-99024123	MCF10A-Er-Src	breast:	n/a	chr8:99024080-99024089
9	GATA3	chr8:99023583-99024255	SK-N-SH	brain:	n/a	chr8:99024149-99024162
10	EP300	chr8:99023620-99024155	SK-N-SH_RA	brain:	n/a	n/a
11	KAP1	chr8:99023762-99024216	HEK293	kidney:	n/a	chr8:99023941-99023949
12	MAX	chr8:99023808-99024242	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr8:99023301-99024262	PFSK-1	brain:	n/a	n/a
14	USF2	chr8:99023953-99024083	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr8:99023670-99024160	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr8:99023502-99024130	PFSK-1	brain:	n/a	n/a
17	CEBPB	chr8:99023457-99024201	IMR90	lung:	n/a	n/a
18	RAD21	chr8:99023709-99024098	IMR90	lung:	n/a	n/a
19	RAD21	chr8:99023720-99024084	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr8:99023640-99024271	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr8:99023578-99024282	SK-N-SH	brain:	n/a	n/a
22	MAX	chr8:99023841-99024094	Hela-S3	cervix:	n/a	n/a
23	NFIC	chr8:99023368-99024381	SK-N-SH	brain:	n/a	chr8:99023920-99023937 chr8:99023920-99023936
24	TCF12	chr8:99023462-99024442	SK-N-SH	brain:	n/a	n/a
25	EP300	chr8:99023621-99024205	SK-N-SH_RA	brain:	n/a	n/a
26	PBX3	chr8:99023609-99024230	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98881503..98883125-chr8:99023785..99026314,2	MCF-7	breast:
2	chr8:99014119..99017352-chr8:99021059..99024142,3	MCF-7	breast:

Variant related genes	Relation type
MATN2	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10088117	0.81[YRI][hapmap]
rs10093417	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1378122	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1454713	0.88[JPT][hapmap]
rs2010016	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2061052	0.83[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2255317	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2331692	0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2444857	0.83[JPT][hapmap]
rs2444859	0.99[ASN][1000 genomes]
rs2444866	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2444885	0.80[ASN][1000 genomes]
rs2444894	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444898	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447488	0.83[ASN][1000 genomes]
rs2513806	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2513808	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513815	0.94[ASN][1000 genomes]
rs2513817	0.89[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2513819	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2513823	0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2959642	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv15294	chr8:99017130-99025235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
3	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
4	chr8:99012000-99028800	Weak transcription	Aorta	Aorta
5	chr8:99012000-99032000	Weak transcription	Gastric	stomach
6	chr8:99012400-99028800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:99014200-99025400	Genic enhancers	Fetal Muscle Leg	muscle
8	chr8:99014200-99029600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:99017000-99025400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:99018000-99025000	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr8:99019000-99033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:99019400-99025200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:99019800-99025400	Genic enhancers	Fetal Stomach	stomach
15	chr8:99020000-99024600	Enhancers	HSMM	muscle
16	chr8:99020000-99033400	Weak transcription	Left Ventricle	heart
17	chr8:99020800-99025200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:99021000-99027200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:99021000-99028600	Weak transcription	Liver	Liver
20	chr8:99021000-99032200	Weak transcription	Brain Substantia Nigra	brain
21	chr8:99021200-99024800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:99021200-99032800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:99021200-99053600	Weak transcription	A549	lung
24	chr8:99021400-99024600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:99021400-99026000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:99021400-99029400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:99021400-99029600	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:99021400-99029800	Weak transcription	Brain Anterior Caudate	brain
29	chr8:99021400-99029800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:99021400-99033400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:99021400-99043800	Weak transcription	Brain Germinal Matrix	brain
32	chr8:99021600-99024400	Enhancers	Fetal Heart	heart
33	chr8:99021600-99028800	Weak transcription	Adipose Nuclei	Adipose
34	chr8:99022000-99024200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:99022200-99024400	Enhancers	HSMMtube	muscle
36	chr8:99022400-99024200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:99022400-99024200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:99022400-99024200	Enhancers	Placenta	Placenta
39	chr8:99022400-99024600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:99022400-99024800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:99022400-99025200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:99022400-99025200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:99022600-99024200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr8:99022600-99024200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:99022600-99024200	Enhancers	Rectal Smooth Muscle	rectum
47	chr8:99022600-99024200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:99022600-99024400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:99022600-99024400	Enhancers	Fetal Kidney	kidney
50	chr8:99022600-99024800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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