Variant report

Variant	rs6468603
Chromosome Location	chr8:98938149-98938150
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98933138..98936017-chr8:98937438..98939186,2	MCF-7	breast:
2	chr8:98933283..98934888-chr8:98936551..98939414,2	K562	blood:
3	chr8:98938075..98940627-chr8:98940797..98943722,2	K562	blood:
4	chr8:98930453..98932411-chr8:98936573..98938197,2	MCF-7	breast:
5	chr8:98936307..98939164-chr8:98941664..98943484,3	K562	blood:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10091886	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1020654	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1020655	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1378123	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1378124	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1378125	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1378126	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454714	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1840370	0.84[ASN][1000 genomes]
rs1840371	0.82[ASN][1000 genomes]
rs1840372	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968721	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256367	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2444879	0.81[JPT][hapmap]
rs2444900	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2444902	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2444903	0.86[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2444906	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2512035	0.88[JPT][hapmap]
rs2512072	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2513835	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2513836	0.81[EUR][1000 genomes]
rs2513837	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2513838	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs2513839	0.91[CEU][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2513845	0.88[JPT][hapmap]
rs2513846	0.81[JPT][hapmap]
rs2513851	1.00[JPT][hapmap]
rs2959646	0.95[CEU][hapmap]
rs4298468	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469426	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4512352	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5012370	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897190	1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[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:57 , 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	chr8:98931000-98938600	Weak transcription	Placenta	Placenta
4	chr8:98931000-98940800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:98931200-98938400	Weak transcription	Left Ventricle	heart
6	chr8:98931200-98944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:98931600-98938200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:98931800-98943200	Enhancers	Fetal Muscle Leg	muscle
9	chr8:98932000-98940800	Weak transcription	Ovary	ovary
10	chr8:98932200-98943400	Weak transcription	Pancreas	Pancrea
11	chr8:98932400-98940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:98934200-98943400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:98934600-98938400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:98934800-98938800	Enhancers	Adipose Nuclei	Adipose
15	chr8:98935200-98941200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:98935200-98941200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:98935200-98944400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:98935400-98938200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:98935400-98941200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:98935400-98941200	Weak transcription	Brain Anterior Caudate	brain
21	chr8:98935800-98938200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:98935800-98938200	Weak transcription	Brain Angular Gyrus	brain
23	chr8:98935800-98941000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:98936000-98938200	Weak transcription	Right Atrium	heart
25	chr8:98936800-98938800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:98937000-98939000	Enhancers	Stomach Mucosa	stomach
27	chr8:98937000-98940800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:98937200-98938800	Enhancers	Fetal Lung	lung
29	chr8:98937200-98939000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:98937200-98939400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:98937400-98938200	Enhancers	Colonic Mucosa	Colon
32	chr8:98937400-98939200	Enhancers	Liver	Liver
33	chr8:98937600-98938600	Enhancers	Fetal Heart	heart
34	chr8:98937600-98939000	Enhancers	Fetal Stomach	stomach
35	chr8:98937600-98939400	Enhancers	NHDF-Ad	bronchial
36	chr8:98937800-98938200	Weak transcription	NHEK	skin
37	chr8:98937800-98938400	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:98937800-98938400	Enhancers	Fetal Kidney	kidney
39	chr8:98937800-98938600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:98937800-98938800	Enhancers	Brain Hippocampus Middle	brain
41	chr8:98937800-98938800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:98937800-98938800	Enhancers	NHLF	lung
43	chr8:98937800-98938800	Enhancers	Osteobl	bone
44	chr8:98937800-98939000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:98937800-98939000	Enhancers	Fetal Intestine Small	intestine
46	chr8:98937800-98939200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:98937800-98939200	Enhancers	Fetal Intestine Large	intestine
48	chr8:98937800-98939400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr8:98938000-98938200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:98938000-98938200	Enhancers	Rectal Mucosa Donor 29	rectum

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