Variant report

Variant	rs2444879
Chromosome Location	chr8:98968801-98968802
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	TEAD4	chr8:98968580-98968899	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr8:98968698-98968962	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr8:98968540-98968954	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr8:98968691-98969003	H1-hESC	embryonic stem cell:	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: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10091886	0.82[JPT][hapmap]
rs1020654	0.82[JPT][hapmap]
rs1020655	0.82[JPT][hapmap]
rs1378123	0.82[JPT][hapmap]
rs1378124	0.89[JPT][hapmap]
rs1378125	0.89[JPT][hapmap]
rs1378126	0.82[JPT][hapmap]
rs1454714	0.89[JPT][hapmap]
rs2444868	0.85[ASN][1000 genomes]
rs2444902	0.82[JPT][hapmap]
rs2512026	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512034	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513845	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513846	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513847	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513851	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4469426	0.82[JPT][hapmap]
rs4512352	0.82[JPT][hapmap]
rs5012370	0.82[JPT][hapmap]
rs6468603	0.81[JPT][hapmap]
rs897190	0.89[JPT][hapmap]

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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
2	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
3	chr8:98956600-98973600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:98957200-98970800	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:98957200-98973600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:98957800-98969200	Weak transcription	Left Ventricle	heart
7	chr8:98963400-98976000	Weak transcription	Fetal Brain Male	brain
8	chr8:98963600-98969000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:98963800-98970600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:98963800-98975200	Weak transcription	Placenta	Placenta
11	chr8:98964600-98970800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:98964800-98969000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:98964800-98970800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:98964800-98976400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:98965000-98969000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:98965000-98969200	Weak transcription	Fetal Lung	lung
17	chr8:98965000-98969400	Weak transcription	Brain Angular Gyrus	brain
18	chr8:98965000-98973600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:98965000-98980200	Weak transcription	Liver	Liver
20	chr8:98965200-98969200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:98965600-98969000	Weak transcription	Adipose Nuclei	Adipose
22	chr8:98965600-98969000	Weak transcription	NHDF-Ad	bronchial
23	chr8:98965600-98970400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:98965600-98983200	Weak transcription	NHLF	lung
25	chr8:98966600-98971000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:98966800-98969200	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:98967000-98969200	Weak transcription	Brain Anterior Caudate	brain
28	chr8:98968000-98976200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:98968200-98969200	Weak transcription	Right Atrium	heart
30	chr8:98968200-98976200	Weak transcription	Gastric	stomach
31	chr8:98968200-98993800	Weak transcription	Esophagus	oesophagus
32	chr8:98968400-98973600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:98968400-98973600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:98968600-98971400	Enhancers	Fetal Stomach	stomach
35	chr8:98968800-98969000	Enhancers	Hela-S3	cervix
36	chr8:98968800-98969200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:98968800-98969200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
38	chr8:98968800-98970000	Enhancers	Fetal Kidney	kidney
39	chr8:98968800-98970000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:98968800-98970200	Enhancers	Brain Substantia Nigra	brain
41	chr8:98968800-98970600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:98968800-98970600	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:98968800-98971200	Enhancers	Ovary	ovary
44	chr8:98968800-98971600	Enhancers	Fetal Muscle Leg	muscle

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