Variant report

Variant	rs2331808
Chromosome Location	chr8:98940822-98940823
allele	A/G
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	TCF12	chr8:98940659-98940962	GM12878	blood:	n/a	n/a
2	SPI1	chr8:98940676-98940988	GM12878	blood:	n/a	chr8:98940935-98940948
3	SPI1	chr8:98940754-98940876	GM12878	blood:	n/a	n/a
4	CTCF	chr8:98940780-98940930	GM12865	blood:	n/a	n/a
5	SPI1	chr8:98940730-98940959	GM12891	blood:	n/a	chr8:98940935-98940948
6	MYC	chr8:98940808-98941677	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr8:98940813-98941537	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98940343..98943382-chr8:99056246..99058981,3	MCF-7	breast:
2	chr8:98915826..98918784-chr8:98939816..98941350,2	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1037529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10755895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1531036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1531037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1531038	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1531039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2124086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2290470	0.89[CEU][hapmap]
rs2331806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2331807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35909550	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735513	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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:66 , 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	chr8:98935200-98941200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:98935200-98941200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:98935200-98944400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:98935400-98941200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:98935400-98941200	Weak transcription	Brain Anterior Caudate	brain
12	chr8:98935800-98941000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:98938200-98944400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:98938200-98956200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
16	chr8:98938400-98941200	Weak transcription	HSMMtube	muscle
17	chr8:98938400-98943200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:98938400-98943600	Weak transcription	Fetal Kidney	kidney
19	chr8:98938600-98941000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:98938600-98941200	Weak transcription	Brain Angular Gyrus	brain
21	chr8:98938600-98941200	Weak transcription	NH-A	brain
22	chr8:98938600-98943000	Weak transcription	Fetal Heart	heart
23	chr8:98938600-98943400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:98938600-98944400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:98938800-98941000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:98938800-98941200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:98938800-98941200	Weak transcription	Adipose Nuclei	Adipose
28	chr8:98938800-98941200	Weak transcription	Fetal Lung	lung
29	chr8:98938800-98943400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:98938800-98944400	Weak transcription	Left Ventricle	heart
31	chr8:98939000-98943200	Weak transcription	Placenta	Placenta
32	chr8:98939000-98943400	Weak transcription	Fetal Intestine Small	intestine
33	chr8:98939000-98944400	Weak transcription	Right Atrium	heart
34	chr8:98939000-98944400	Weak transcription	Stomach Mucosa	stomach
35	chr8:98939200-98942200	Weak transcription	Liver	Liver
36	chr8:98939200-98943600	Weak transcription	Fetal Intestine Large	intestine
37	chr8:98939400-98941200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:98940000-98941600	Enhancers	Fetal Muscle Trunk	muscle
39	chr8:98940000-98942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:98940000-98943600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:98940200-98941800	Enhancers	GM12878-XiMat	blood
42	chr8:98940200-98947400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:98940600-98941600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:98940800-98941000	Enhancers	Esophagus	oesophagus
45	chr8:98940800-98941000	Enhancers	Hela-S3	cervix
46	chr8:98940800-98941200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:98940800-98941200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:98940800-98941200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:98940800-98941200	Flanking Active TSS	HMEC	breast
50	chr8:98940800-98941200	Flanking Active TSS	NHEK	skin

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