Variant report

Variant	rs2512032
Chromosome Location	chr8:98969239-98969240
allele	G/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	chr8:98969133-98969278	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98966806..98971038-chr8:98972037..98974632,4	K562	blood:
2	chr8:98968508..98970567-chr8:98972102..98974220,2	K562	blood:

Variant related genes	Relation type
MATN2	TF binding region
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1470957	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444880	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2444881	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2512030	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513844	0.82[JPT][hapmap]
rs3816496	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs897189	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2512032	GRHL2	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
2	chr8:98956600-98973600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:98957200-98970800	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:98957200-98973600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:98963400-98976000	Weak transcription	Fetal Brain Male	brain
6	chr8:98963800-98970600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:98963800-98975200	Weak transcription	Placenta	Placenta
8	chr8:98964600-98970800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:98964800-98970800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:98964800-98976400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:98965000-98969400	Weak transcription	Brain Angular Gyrus	brain
12	chr8:98965000-98973600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:98965000-98980200	Weak transcription	Liver	Liver
14	chr8:98965600-98970400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:98965600-98983200	Weak transcription	NHLF	lung
16	chr8:98966600-98971000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:98968000-98976200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:98968200-98976200	Weak transcription	Gastric	stomach
19	chr8:98968200-98993800	Weak transcription	Esophagus	oesophagus
20	chr8:98968400-98973600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:98968400-98973600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:98968600-98971400	Enhancers	Fetal Stomach	stomach
23	chr8:98968800-98970000	Enhancers	Fetal Kidney	kidney
24	chr8:98968800-98970000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:98968800-98970200	Enhancers	Brain Substantia Nigra	brain
26	chr8:98968800-98970600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr8:98968800-98970600	Enhancers	Fetal Muscle Trunk	muscle
28	chr8:98968800-98971200	Enhancers	Ovary	ovary
29	chr8:98968800-98971600	Enhancers	Fetal Muscle Leg	muscle
30	chr8:98969000-98969400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:98969000-98969800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:98969000-98969800	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:98969000-98970000	Enhancers	Right Ventricle	heart
34	chr8:98969000-98970000	Enhancers	NHDF-Ad	bronchial
35	chr8:98969000-98970200	Enhancers	Rectal Smooth Muscle	rectum
36	chr8:98969000-98971600	Enhancers	Adipose Nuclei	Adipose
37	chr8:98969200-98969400	Enhancers	Colonic Mucosa	Colon
38	chr8:98969200-98969400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:98969200-98969800	Enhancers	Brain Anterior Caudate	brain
40	chr8:98969200-98969800	Enhancers	Fetal Lung	lung
41	chr8:98969200-98969800	Enhancers	Lung	lung
42	chr8:98969200-98970000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:98969200-98970000	Enhancers	Brain Hippocampus Middle	brain
44	chr8:98969200-98971000	Enhancers	Stomach Smooth Muscle	stomach
45	chr8:98969200-98971200	Enhancers	Left Ventricle	heart
46	chr8:98969200-98971200	Weak transcription	Stomach Mucosa	stomach
47	chr8:98969200-98971400	Enhancers	Right Atrium	heart
48	chr8:98969200-98979800	Weak transcription	Fetal Intestine Small	intestine

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