Variant report

Variant	rs2444902
Chromosome Location	chr8:98941481-98941482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:98941287-98941679	GM12891	blood:	n/a	n/a
2	BATF	chr8:98941283-98941594	GM12878	blood:	n/a	n/a
3	RCOR1	chr8:98941073-98941701	Hela-S3	cervix:	n/a	n/a
4	EP300	chr8:98941472-98941660	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:98941213-98941520	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr8:98941293-98941811	MCF10A-Er-Src	breast:	n/a	n/a
7	RAD21	chr8:98941180-98941771	Hela-S3	cervix:	n/a	n/a
8	TCF12	chr8:98940889-98941859	SK-N-SH	brain:	n/a	n/a
9	MAFK	chr8:98941188-98941697	IMR90	lung:	n/a	n/a
10	CEBPB	chr8:98940864-98941573	Hela-S3	cervix:	n/a	chr8:98941081-98941094
11	FOS	chr8:98941180-98941622	MCF10A-Er-Src	breast:	n/a	n/a
12	TEAD4	chr8:98941092-98941769	SK-N-SH	brain:	n/a	n/a
13	TCF7L2	chr8:98940985-98941639	Hela-S3	cervix:	n/a	n/a
14	SPI1	chr8:98941292-98941624	GM12878	blood:	n/a	n/a
15	MAFK	chr8:98941153-98941564	Hela-S3	cervix:	n/a	n/a
16	TBP	chr8:98941032-98941568	Hela-S3	cervix:	n/a	n/a
17	FOSL2	chr8:98941027-98941792	SK-N-SH	brain:	n/a	n/a
18	JUND	chr8:98941054-98941789	SK-N-SH	brain:	n/a	n/a
19	NFIC	chr8:98941087-98941699	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr8:98941116-98941659	Hela-S3	cervix:	n/a	n/a
21	REST	chr8:98941212-98941491	SK-N-SH	brain:	n/a	n/a
22	RXRA	chr8:98941020-98941757	SK-N-SH	brain:	n/a	n/a
23	PBX3	chr8:98941074-98941722	SK-N-SH	brain:	n/a	n/a
24	E2F4	chr8:98941300-98941599	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr8:98941103-98941715	U87	brain:	n/a	n/a
26	JUND	chr8:98941132-98941729	HCT-116	colon:	n/a	n/a
27	FOS	chr8:98941179-98941620	MCF10A-Er-Src	breast:	n/a	n/a
28	SPI1	chr8:98941224-98941850	GM12878	blood:	n/a	n/a
29	MYC	chr8:98940808-98941677	MCF10A-Er-Src	breast:	n/a	n/a
30	NFIC	chr8:98940994-98941833	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr8:98941046-98941910	U87	brain:	n/a	n/a
32	POLR2A	chr8:98941096-98941659	SK-N-SH	brain:	n/a	n/a
33	MAX	chr8:98940813-98941537	Hela-S3	cervix:	n/a	n/a
34	GATA3	chr8:98940895-98941813	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr8:98941097-98941924	U87	brain:	n/a	n/a
36	RCOR1	chr8:98940834-98942069	IMR90	lung:	n/a	n/a
37	TCF7L2	chr8:98941152-98941507	Hela-S3	cervix:	n/a	n/a
38	TFAP2C	chr8:98941121-98941520	Hela-S3	cervix:	n/a	n/a
39	FOSL1	chr8:98941074-98941775	HCT-116	colon:	n/a	n/a
40	STAT3	chr8:98941226-98941735	MCF10A-Er-Src	breast:	n/a	n/a
41	GTF2F1	chr8:98941120-98941678	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr8:98941103-98941702	U87	brain:	n/a	n/a
43	FOS	chr8:98940866-98941771	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr8:98941152-98941666	MCF10A-Er-Src	breast:	n/a	n/a
45	CHD2	chr8:98941204-98941547	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr8:98941399-98941751	GM12878	blood:	n/a	n/a
47	STAT3	chr8:98940965-98941842	MCF10A-Er-Src	breast:	n/a	n/a
48	SPI1	chr8:98941373-98941578	GM12878	blood:	n/a	n/a
49	GATA3	chr8:98940835-98941830	SK-N-SH	brain:	n/a	n/a
50	EBF1	chr8:98941313-98941590	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98940343..98943382-chr8:99056246..99058981,3	MCF-7	breast:

No data

Variant related genes	Relation type
MATN2	TF binding region
ENSG00000156482	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10091886	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1020654	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1020655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12548243	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1378123	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1378124	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1378125	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1378126	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1454714	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1840370	0.81[ASN][1000 genomes]
rs1840372	0.97[ASN][1000 genomes]
rs1968721	0.97[ASN][1000 genomes]
rs2444879	0.82[JPT][hapmap]
rs2512035	0.89[JPT][hapmap]
rs2512071	1.00[CHB][hapmap]
rs2513845	0.89[JPT][hapmap]
rs2513846	0.82[JPT][hapmap]
rs2513847	0.81[JPT][hapmap]
rs2513851	1.00[JPT][hapmap]
rs4298468	0.97[ASN][1000 genomes]
rs4469426	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4512352	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs5012370	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6468603	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs897190	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][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	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	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98929200-98944800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:98930800-98950000	Weak transcription	Right Ventricle	heart
3	chr8:98931200-98944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:98931800-98943200	Enhancers	Fetal Muscle Leg	muscle
5	chr8:98932200-98943400	Weak transcription	Pancreas	Pancrea
6	chr8:98934200-98943400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:98935200-98944400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:98938200-98944400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:98938200-98956200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
11	chr8:98938400-98943200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:98938400-98943600	Weak transcription	Fetal Kidney	kidney
13	chr8:98938600-98943000	Weak transcription	Fetal Heart	heart
14	chr8:98938600-98943400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:98938600-98944400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:98938800-98943400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:98938800-98944400	Weak transcription	Left Ventricle	heart
18	chr8:98939000-98943200	Weak transcription	Placenta	Placenta
19	chr8:98939000-98943400	Weak transcription	Fetal Intestine Small	intestine
20	chr8:98939000-98944400	Weak transcription	Right Atrium	heart
21	chr8:98939000-98944400	Weak transcription	Stomach Mucosa	stomach
22	chr8:98939200-98942200	Weak transcription	Liver	Liver
23	chr8:98939200-98943600	Weak transcription	Fetal Intestine Large	intestine
24	chr8:98940000-98941600	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:98940000-98942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:98940000-98943600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:98940200-98941800	Enhancers	GM12878-XiMat	blood
28	chr8:98940200-98947400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:98940600-98941600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:98940800-98941600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:98940800-98941800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:98940800-98942200	Enhancers	Colon Smooth Muscle	Colon
33	chr8:98940800-98942200	Enhancers	Fetal Stomach	stomach
34	chr8:98940800-98942400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:98940800-98942400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:98940800-98942400	Enhancers	NHLF	lung
37	chr8:98940800-98942600	Enhancers	Brain Hippocampus Middle	brain
38	chr8:98940800-98942600	Enhancers	Brain Substantia Nigra	brain
39	chr8:98940800-98943200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:98940800-98944600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:98941000-98941800	Flanking Active TSS	Hela-S3	cervix
42	chr8:98941000-98942200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:98941000-98942200	Enhancers	Brain Cingulate Gyrus	brain
44	chr8:98941000-98942400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
46	chr8:98941200-98941600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:98941200-98941600	Active TSS	HMEC	breast
48	chr8:98941200-98941600	Active TSS	NHEK	skin
49	chr8:98941200-98941800	Enhancers	Fetal Lung	lung
50	chr8:98941200-98941800	Flanking Active TSS	Osteobl	bone

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