Variant report

Variant	rs6982048
Chromosome Location	chr8:10695796-10695797
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	chr8:10695657-10695927	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr8:10695780-10695930	AG04450	lung:	n/a	n/a
3	CTCF	chr8:10695761-10698042	A549	lung:	n/a	chr8:10696558-10696576 chr8:10696560-10696573 chr8:10696559-10696575 chr8:10696553-10696574

No.	Distal block	Cell Line	Cell type
1	chr8:10683525..10686850-chr8:10694502..10697878,5	K562	blood:
2	chr8:10683547..10686608-chr8:10694341..10697878,5	K562	blood:
3	chr8:10674954..10678350-chr8:10693952..10697087,3	K562	blood:
4	chr8:10442817..10445019-chr8:10695179..10696964,2	MCF-7	breast:
5	chr8:10694381..10696683-chr8:10699083..10701009,2	K562	blood:
6	chr8:10694766..10696620-chr8:10707984..10711858,3	K562	blood:
7	chr8:10687156..10690707-chr8:10693616..10698468,7	K562	blood:
8	chr8:10405123..10407146-chr8:10694080..10697115,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253695	TF binding region
ENSG00000254093	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10088888	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10091961	0.88[EUR][1000 genomes]
rs11250082	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11986013	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11986015	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11990167	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1469557	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1544980	0.95[EUR][1000 genomes]
rs28710808	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56978698	0.97[ASN][1000 genomes]
rs6990589	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7010709	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
4	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
5	chr8:10683200-10696000	Weak transcription	NHLF	lung
6	chr8:10683600-10696200	Weak transcription	Fetal Kidney	kidney
7	chr8:10684400-10696200	Weak transcription	NHDF-Ad	bronchial
8	chr8:10686200-10696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:10686400-10696400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10688000-10696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:10688000-10696200	Weak transcription	Fetal Brain Male	brain
12	chr8:10688800-10696200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:10688800-10696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:10689800-10696200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:10690600-10696000	Weak transcription	HUVEC	blood vessel
16	chr8:10690600-10696200	Weak transcription	NH-A	brain
17	chr8:10690800-10696000	Weak transcription	HSMM	muscle
18	chr8:10690800-10696200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:10691000-10696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:10691000-10696000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:10691000-10696000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:10691000-10696000	Weak transcription	HSMMtube	muscle
23	chr8:10691000-10696000	Weak transcription	Osteobl	bone
24	chr8:10691000-10696200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:10691000-10696200	Weak transcription	Brain Angular Gyrus	brain
26	chr8:10691400-10696000	Weak transcription	Brain Substantia Nigra	brain
27	chr8:10691400-10696000	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:10691400-10696200	Weak transcription	Fetal Intestine Small	intestine
29	chr8:10691400-10696600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:10691400-10696600	Weak transcription	Small Intestine	intestine
31	chr8:10691600-10696200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:10691600-10696600	Weak transcription	Aorta	Aorta
33	chr8:10691800-10696000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:10691800-10696000	Weak transcription	Fetal Stomach	stomach
35	chr8:10691800-10696200	Weak transcription	Placenta	Placenta
36	chr8:10691800-10696600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:10691800-10696600	Weak transcription	Lung	lung
38	chr8:10691800-10696600	Weak transcription	Ovary	ovary
39	chr8:10692000-10695800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:10692000-10696000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:10692000-10696000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:10692000-10696000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:10692000-10696000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:10692000-10696000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:10692000-10696000	Weak transcription	Brain Germinal Matrix	brain
46	chr8:10692000-10696000	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:10692000-10696000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:10692000-10696000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:10692000-10696000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:10692000-10696000	Weak transcription	Stomach Smooth Muscle	stomach

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