Variant report

Variant	rs883034
Chromosome Location	chr8:11646834-11646835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11646746-11647012	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:11646720-11646995	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11646810-11646860	RPTEC	kidney:	n/a
2	chr8:11646810-11646860	AG04449	skin:	fetal
3	chr8:11646810-11646860	NH-A	brain:	n/a
4	chr8:11646810-11646860	HIPEpiC	eye:	n/a
5	chr8:11646810-11646860	SK-N-MC	brain:	n/a
6	chr8:11646810-11646860	GM19239	blood:	n/a
7	chr8:11646810-11646860	MCF-7	breast:	n/a
8	chr8:11646810-11646860	U87	brain:	n/a
9	chr8:11646810-11646860	HUVEC	blood vessel:	n/a
10	chr8:11646810-11646860	K562	blood:	n/a
11	chr8:11646810-11646860	T-47D	breast:	n/a
12	chr8:11646810-11646860	GM12891	blood:	n/a
13	chr8:11646810-11646860	MCF10A-Er-Src	breast:	n/a
14	chr8:11646810-11646860	Hela-S3	cervix:	n/a
15	chr8:11646810-11646860	HEEpiC	esophagus:	n/a
16	chr8:11646810-11646860	CMK	blood:	n/a
17	chr8:11646810-11646860	H1-hESC	embryonic stem cell:	embryo
18	chr8:11646810-11646860	HRCEpiC	kidney:	n/a
19	chr8:11646810-11646860	GM12878	blood:	n/a
20	chr8:11646810-11646860	AoSMC	blood vessel:	n/a
21	chr8:11646810-11646860	AG09309	skin:	n/a
22	chr8:11646810-11646860	ECC-1	luminal epithelium:	n/a
23	chr8:11646810-11646860	Caco-2	colon:	n/a
24	chr8:11646810-11646860	HCF	heart:	n/a
25	chr8:11646810-11646860	NT2-D1	testis:	n/a
26	chr8:11646810-11646860	GM06990	blood:	n/a
27	chr8:11646810-11646860	HCT-116	colon:	n/a
28	chr8:11646810-11646860	PFSK-1	brain:	n/a
29	chr8:11646810-11646860	HCPEpiC	choroid plexus:	n/a
30	chr8:11646810-11646860	HMEC	breast:	n/a
31	chr8:11646810-11646860	NHBE	bronchial:	n/a
32	chr8:11646810-11646860	SK-N-SH_RA	brain:	n/a
33	chr8:11646810-11646860	HEK293	kidney:	embryo
34	chr8:11646810-11646860	HPAEpiC	pulmonary alveolar:	n/a
35	chr8:11646810-11646860	HAEpiC	amniotic membrane:	n/a
36	chr8:11646810-11646860	SAEC	small airway:	n/a
37	chr8:11646810-11646860	HepG2	liver:	n/a
38	chr8:11646810-11646860	BE2_C	brain:	n/a
39	chr8:11646810-11646860	A549	lung:	n/a
40	chr8:11646810-11646860	Hepatocyte	liver:	n/a
41	chr8:11646810-11646860	AG10803	skin:	n/a
42	chr8:11646810-11646860	HCM	heart:	n/a
43	chr8:11646810-11646860	PrEC	prostate:	n/a
44	chr8:11646810-11646860	ProgFib	skin:	n/a
45	chr8:11646810-11646860	SKMC	muscle:	n/a
46	chr8:11646810-11646860	GM12892	blood:	n/a
47	chr8:11646810-11646860	Jurkat	blood:	n/a
48	chr8:11646810-11646860	HRE	kidney:	n/a
49	chr8:11646810-11646860	AG04450	lung:	fetal
50	chr8:11646810-11646860	ovcar-3	ovarian:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11625967..11628744-chr8:11645697..11648212,2	MCF-7	breast:
2	chr8:11625684..11627765-chr8:11645905..11648269,2	K562	blood:
3	chr8:11637260..11639168-chr8:11645099..11647488,2	MCF-7	breast:
4	chr8:11629053..11631703-chr8:11645453..11647397,2	K562	blood:
5	chr8:11644178..11646906-chr8:11648968..11651779,2	K562	blood:
6	chr8:11645433..11648215-chr8:11658187..11661640,5	MCF-7	breast:

No data

Variant related genes	Relation type
SUB1P1	TF binding region
SUB1P1	CpG island
ENSG00000154328	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000255046	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10098874	0.88[EUR][1000 genomes]
rs1047643	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55756391	0.88[EUR][1000 genomes]
rs57720356	0.83[EUR][1000 genomes]
rs58940199	0.81[EUR][1000 genomes]
rs60471430	0.81[EUR][1000 genomes]
rs6993946	0.85[EUR][1000 genomes]
rs73547720	0.85[EUR][1000 genomes]
rs7818952	0.83[EUR][1000 genomes]
rs7823420	0.81[EUR][1000 genomes]
rs7824202	0.81[EUR][1000 genomes]
rs7843716	0.83[EUR][1000 genomes]
rs7845566	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11628400-11647200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:11628400-11653000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:11628400-11656800	Weak transcription	Small Intestine	intestine
4	chr8:11628600-11647200	Weak transcription	Fetal Heart	heart
5	chr8:11636800-11659400	Weak transcription	Thymus	Thymus
6	chr8:11640800-11658600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:11641000-11658000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:11641000-11659600	Weak transcription	Right Atrium	heart
9	chr8:11641200-11658400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:11641200-11659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:11641400-11648600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:11641600-11653600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:11641800-11653200	Weak transcription	Stomach Mucosa	stomach
14	chr8:11642000-11654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:11642200-11653000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:11642600-11652800	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:11643000-11653000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:11643200-11647000	Weak transcription	Fetal Lung	lung
19	chr8:11643400-11653000	Weak transcription	Fetal Kidney	kidney
20	chr8:11643400-11653000	Weak transcription	HSMM	muscle
21	chr8:11643600-11658200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:11643800-11647000	Weak transcription	NHLF	lung
23	chr8:11643800-11647200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:11643800-11647200	Weak transcription	Left Ventricle	heart
25	chr8:11643800-11653000	Weak transcription	Fetal Intestine Large	intestine
26	chr8:11643800-11653800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:11643800-11654000	Weak transcription	GM12878-XiMat	blood
28	chr8:11643800-11654400	Weak transcription	Gastric	stomach
29	chr8:11643800-11659400	Weak transcription	Brain Angular Gyrus	brain
30	chr8:11643800-11659600	Weak transcription	Aorta	Aorta
31	chr8:11644000-11648400	Weak transcription	Adipose Nuclei	Adipose
32	chr8:11644000-11653000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:11644200-11653000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:11644200-11653200	Weak transcription	Colonic Mucosa	Colon
35	chr8:11644200-11658400	Weak transcription	Brain Germinal Matrix	brain
36	chr8:11644400-11647000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:11644400-11647400	Weak transcription	Brain Substantia Nigra	brain
38	chr8:11644400-11648200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:11644400-11648200	Weak transcription	A549	lung
40	chr8:11644400-11648800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:11644400-11653000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:11644400-11659400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:11644600-11647000	Weak transcription	Right Ventricle	heart
44	chr8:11644600-11648600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:11644600-11653000	Weak transcription	Placenta	Placenta
46	chr8:11644600-11654600	Weak transcription	Lung	lung
47	chr8:11644600-11654600	Weak transcription	Spleen	Spleen
48	chr8:11644600-11659400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:11644800-11647000	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:11644800-11648800	Weak transcription	Liver	Liver

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