Variant report

Variant	rs1531037
Chromosome Location	chr8:98942342-98942343
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	RAD21	chr8:98941872-98942383	MCF-7	breast:	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	chr8:98936307..98939164-chr8:98941664..98943484,3	K562	blood:

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];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10755895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1531036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531038	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290470	0.89[CEU][hapmap]
rs2331806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2331808	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]
rs35909550	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735513	0.96[AMR][1000 genomes];0.98[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:74 , 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	chr8:98939200-98943600	Weak transcription	Fetal Intestine Large	intestine
23	chr8:98940000-98942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:98940000-98943600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:98940200-98947400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:98940800-98942400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr8:98940800-98942400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:98940800-98942400	Enhancers	NHLF	lung
29	chr8:98940800-98942600	Enhancers	Brain Hippocampus Middle	brain
30	chr8:98940800-98942600	Enhancers	Brain Substantia Nigra	brain
31	chr8:98940800-98943200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:98940800-98944600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:98941000-98942400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
35	chr8:98941200-98942400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:98941200-98942400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:98941200-98942400	Enhancers	Adipose Nuclei	Adipose
38	chr8:98941200-98942400	Enhancers	Brain Anterior Caudate	brain
39	chr8:98941200-98942400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr8:98941200-98942600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:98941200-98942600	Enhancers	Brain Angular Gyrus	brain
42	chr8:98941400-98942400	Enhancers	Spleen	Spleen
43	chr8:98941400-98942400	Enhancers	A549	lung
44	chr8:98941400-98943200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:98941400-98943200	Weak transcription	Ovary	ovary
46	chr8:98941600-98942800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:98941600-98944000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:98941600-98944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:98941800-98942400	Enhancers	Hela-S3	cervix
50	chr8:98941800-98942400	Enhancers	Osteobl	bone

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