Variant report

Variant	rs2513839
Chromosome Location	chr8:98939278-98939279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98933283..98934888-chr8:98936551..98939414,2	K562	blood:
2	chr8:98938075..98940627-chr8:98940797..98943722,2	K562	blood:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10091886	0.91[CEU][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1020654	0.96[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1020655	0.95[CEU][hapmap];0.97[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11996155	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12548243	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12550816	1.00[YRI][hapmap]
rs1378123	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1378124	1.00[CEU][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1378125	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1378126	1.00[CEU][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1454714	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1840370	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1840371	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1840372	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1968721	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2444899	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2444900	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512071	0.93[ASN][1000 genomes]
rs2512072	0.96[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513835	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2513836	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513837	0.87[CEU][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513838	0.95[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2959646	0.87[CEU][hapmap]
rs4298468	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4469426	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4512352	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5012370	1.00[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6468603	0.91[CEU][hapmap];0.81[EUR][1000 genomes];0.81[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:60 , 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	chr8:98931000-98940800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:98931200-98944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:98931800-98943200	Enhancers	Fetal Muscle Leg	muscle
6	chr8:98932000-98940800	Weak transcription	Ovary	ovary
7	chr8:98932200-98943400	Weak transcription	Pancreas	Pancrea
8	chr8:98932400-98940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:98934200-98943400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:98935200-98941200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:98935200-98941200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:98935200-98944400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:98935400-98941200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:98935400-98941200	Weak transcription	Brain Anterior Caudate	brain
15	chr8:98935800-98941000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:98937000-98940800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:98937200-98939400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:98937600-98939400	Enhancers	NHDF-Ad	bronchial
19	chr8:98937800-98939400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:98938200-98944400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:98938200-98956200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
23	chr8:98938400-98940400	Weak transcription	NHEK	skin
24	chr8:98938400-98941200	Weak transcription	HSMMtube	muscle
25	chr8:98938400-98943200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:98938400-98943600	Weak transcription	Fetal Kidney	kidney
27	chr8:98938600-98940000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:98938600-98940800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:98938600-98940800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:98938600-98940800	Weak transcription	Brain Substantia Nigra	brain
31	chr8:98938600-98941000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:98938600-98941200	Weak transcription	Brain Angular Gyrus	brain
33	chr8:98938600-98941200	Weak transcription	NH-A	brain
34	chr8:98938600-98943000	Weak transcription	Fetal Heart	heart
35	chr8:98938600-98943400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:98938600-98944400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:98938800-98940800	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:98938800-98940800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:98938800-98940800	Weak transcription	NHLF	lung
40	chr8:98938800-98940800	Weak transcription	Osteobl	bone
41	chr8:98938800-98941000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:98938800-98941200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:98938800-98941200	Weak transcription	Adipose Nuclei	Adipose
44	chr8:98938800-98941200	Weak transcription	Fetal Lung	lung
45	chr8:98938800-98943400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:98938800-98944400	Weak transcription	Left Ventricle	heart
47	chr8:98939000-98940200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:98939000-98940800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:98939000-98940800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:98939000-98940800	Weak transcription	Fetal Stomach	stomach

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