Variant report

Variant	rs6987514
Chromosome Location	chr8:10696177-10696178
allele	C/G
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	SMC3	chr8:10695944-10697003	SK-N-SH	brain:	n/a	chr8:10696560-10696574
2	HCFC1	chr8:10696157-10697962	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr8:10696152-10697954	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:10695994-10696797	HepG2	liver:	n/a	n/a
5	REST	chr8:10696169-10697919	H1-neurons	neurons:	n/a	chr8:10697451-10697464
6	CTCF	chr8:10696100-10696250	BJ	skin:	n/a	n/a
7	CTCF	chr8:10696150-10696915	HCT-116	colon:	n/a	chr8:10696558-10696576 chr8:10696560-10696573 chr8:10696559-10696575 chr8:10696553-10696574
8	POLR2A	chr8:10696117-10696888	HepG2	liver:	n/a	n/a
9	MXI1	chr8:10696164-10698606	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr8:10696084-10698426	GM12891	blood:	n/a	n/a
11	POLR2A	chr8:10695983-10697821	GM12878	blood:	n/a	n/a
12	USF2	chr8:10696020-10696654	GM12878	blood:	n/a	n/a
13	MYC	chr8:10696087-10697961	K562	blood:	n/a	n/a
14	CTCF	chr8:10696060-10696210	HPF	lung:	n/a	n/a
15	CTCF	chr8:10696012-10697813	SK-N-SH	brain:	n/a	chr8:10696558-10696576 chr8:10696560-10696573 chr8:10696559-10696575 chr8:10696553-10696574
16	POLR2A	chr8:10696074-10696878	GM12878	blood:	n/a	n/a
17	RAD21	chr8:10696176-10696933	SK-N-SH	brain:	n/a	chr8:10696556-10696575 chr8:10696558-10696570
18	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	chr8:10447281..10448089-chr8:10696064..10697196,3	MCF-7	breast:
4	chr8:10674954..10678350-chr8:10693952..10697087,3	K562	blood:
5	chr8:10442817..10445019-chr8:10695179..10696964,2	MCF-7	breast:
6	chr8:10694381..10696683-chr8:10699083..10701009,2	K562	blood:
7	chr8:10694766..10696620-chr8:10707984..10711858,3	K562	blood:
8	chr8:10687156..10690707-chr8:10693616..10698468,7	K562	blood:
9	chr8:10690421..10694581-chr8:10695821..10698975,5	MCF-7	breast:
10	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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10086247	1.00[AMR][1000 genomes]
rs10088387	1.00[AMR][1000 genomes]
rs10089508	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10106138	1.00[AMR][1000 genomes]
rs10109388	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111185	1.00[AMR][1000 genomes]
rs11250063	1.00[AMR][1000 genomes]
rs11984917	1.00[AMR][1000 genomes]
rs11989282	1.00[AMR][1000 genomes]
rs11993141	1.00[AMR][1000 genomes]
rs12546210	1.00[AMR][1000 genomes]
rs28613894	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28712563	1.00[AMR][1000 genomes]
rs6998635	1.00[AMR][1000 genomes]
rs7824572	1.00[AMR][1000 genomes]
rs7825310	1.00[AMR][1000 genomes]
rs7831365	1.00[AMR][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	chr8:10683600-10696200	Weak transcription	Fetal Kidney	kidney
6	chr8:10684400-10696200	Weak transcription	NHDF-Ad	bronchial
7	chr8:10686200-10696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:10686400-10696400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:10688000-10696200	Weak transcription	Fetal Brain Male	brain
10	chr8:10688800-10696200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:10688800-10696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:10689800-10696200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:10690600-10696200	Weak transcription	NH-A	brain
14	chr8:10690800-10696200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:10691000-10696200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:10691000-10696200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:10691400-10696200	Weak transcription	Fetal Intestine Small	intestine
18	chr8:10691400-10696600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:10691400-10696600	Weak transcription	Small Intestine	intestine
20	chr8:10691600-10696200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:10691600-10696600	Weak transcription	Aorta	Aorta
22	chr8:10691800-10696200	Weak transcription	Placenta	Placenta
23	chr8:10691800-10696600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:10691800-10696600	Weak transcription	Lung	lung
25	chr8:10691800-10696600	Weak transcription	Ovary	ovary
26	chr8:10692000-10696200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:10692000-10696200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:10692000-10696200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:10692000-10696200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:10692000-10696200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:10692000-10696200	Weak transcription	Adipose Nuclei	Adipose
32	chr8:10692000-10696200	Weak transcription	Brain Anterior Caudate	brain
33	chr8:10692000-10696200	Weak transcription	Fetal Intestine Large	intestine
34	chr8:10692000-10696200	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:10692000-10696200	Weak transcription	Thymus	Thymus
36	chr8:10692000-10696600	Weak transcription	Esophagus	oesophagus
37	chr8:10692000-10696600	Weak transcription	Gastric	stomach
38	chr8:10692000-10696600	Weak transcription	Right Ventricle	heart
39	chr8:10692000-10696600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:10692000-10696800	Weak transcription	Spleen	Spleen
41	chr8:10692200-10696200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:10692200-10696200	Weak transcription	Colonic Mucosa	Colon
43	chr8:10692200-10696200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:10692400-10696200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:10692400-10696200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr8:10692400-10696600	Weak transcription	Left Ventricle	heart
47	chr8:10692800-10696200	Weak transcription	Primary B cells from cord blood	blood
48	chr8:10692800-10696400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:10693600-10696200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:10694400-10696200	Enhancers	Duodenum Mucosa	Duodenum

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