Variant report

Variant	rs56249776
Chromosome Location	chr8:59502925-59502926
allele	C/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	CTCF	chr8:59502820-59502970	HBMEC	blood vessel:	n/a	chr8:59502921-59502934
2	REST	chr8:59502687-59502985	H1-hESC	embryonic stem cell:	n/a	chr8:59502866-59502880 chr8:59502860-59502880
3	CTCF	chr8:59502860-59503010	HRPEpiC	eye:	n/a	chr8:59502921-59502934
4	RAD21	chr8:59502710-59503017	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr8:59502798-59502980	K562	blood:	n/a	chr8:59502866-59502880 chr8:59502860-59502880
6	REST	chr8:59502716-59502997	H1-hESC	embryonic stem cell:	n/a	chr8:59502866-59502880 chr8:59502860-59502880

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59501580..59503825-chr8:59505050..59507030,2	K562	blood:

Variant related genes	Relation type
ENSG00000242970	TF binding region
NSMAF	TF binding region
ENSG00000035681	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10085973	0.81[EUR][1000 genomes]
rs10090425	0.82[EUR][1000 genomes]
rs10091952	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10092359	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094910	0.95[EUR][1000 genomes]
rs10099153	0.88[EUR][1000 genomes]
rs10099240	0.81[EUR][1000 genomes]
rs10099912	0.88[EUR][1000 genomes]
rs10102709	0.82[EUR][1000 genomes]
rs10104292	0.88[EUR][1000 genomes]
rs10107530	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110065	0.80[AMR][1000 genomes]
rs10110111	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10111052	0.95[EUR][1000 genomes]
rs10111180	0.88[EUR][1000 genomes]
rs10111506	0.81[EUR][1000 genomes]
rs10113323	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10113667	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10113830	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10504256	0.88[EUR][1000 genomes]
rs1050488	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050504	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775194	0.80[AMR][1000 genomes]
rs11776003	0.81[EUR][1000 genomes]
rs11782455	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783174	0.89[EUR][1000 genomes]
rs11785141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335008	0.86[EUR][1000 genomes]
rs12674568	0.82[EUR][1000 genomes]
rs12674724	0.86[EUR][1000 genomes]
rs12676593	0.88[EUR][1000 genomes]
rs12677290	0.90[EUR][1000 genomes]
rs12678669	0.80[AMR][1000 genomes]
rs12679938	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12680104	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12680996	0.80[EUR][1000 genomes]
rs1352496	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16923562	0.80[EUR][1000 genomes]
rs16923564	0.81[EUR][1000 genomes]
rs16923588	0.89[EUR][1000 genomes]
rs16923594	0.89[EUR][1000 genomes]
rs17206746	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17263989	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17272151	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1976162	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991359	0.81[EUR][1000 genomes]
rs2130072	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2279460	0.95[EUR][1000 genomes]
rs2279462	0.97[EUR][1000 genomes]
rs28429491	0.81[EUR][1000 genomes]
rs28650441	0.81[EUR][1000 genomes]
rs28656336	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28711402	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3739327	0.82[EUR][1000 genomes]
rs3808609	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3816846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4282557	0.81[EUR][1000 genomes]
rs4400366	0.88[EUR][1000 genomes]
rs4400367	0.81[EUR][1000 genomes]
rs4579515	0.88[EUR][1000 genomes]
rs55774738	0.81[EUR][1000 genomes]
rs59979442	0.88[EUR][1000 genomes]
rs6471729	0.80[EUR][1000 genomes]
rs6981601	0.81[EUR][1000 genomes]
rs6986129	0.81[EUR][1000 genomes]
rs6995115	0.90[EUR][1000 genomes]
rs7009248	0.81[EUR][1000 genomes]
rs7009374	0.81[EUR][1000 genomes]
rs7011095	0.86[EUR][1000 genomes]
rs7014398	0.80[EUR][1000 genomes]
rs72647424	0.80[AMR][1000 genomes]
rs72647425	0.80[AMR][1000 genomes]
rs72647434	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72647435	0.86[EUR][1000 genomes]
rs72647437	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72647443	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825996	0.87[EUR][1000 genomes]
rs7826122	0.87[EUR][1000 genomes]
rs7826603	0.87[EUR][1000 genomes]
rs7827910	0.80[EUR][1000 genomes]
rs7840932	0.89[EUR][1000 genomes]
rs7844231	0.88[EUR][1000 genomes]
rs9297996	0.88[EUR][1000 genomes]
rs9297998	0.88[EUR][1000 genomes]
rs9297999	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong 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 miRNA target site	10 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	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:59476600-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:59477200-59503000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:59477200-59503400	Strong transcription	NHDF-Ad	bronchial
9	chr8:59477200-59506200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:59477600-59503600	Strong transcription	Osteobl	bone
11	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:59477800-59508800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:59478000-59503000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr8:59478000-59503200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:59478000-59506400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:59478000-59508200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:59478000-59508600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:59478000-59508800	Strong transcription	Fetal Intestine Large	intestine
19	chr8:59479000-59503800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr8:59479200-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:59479600-59508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:59480400-59503000	Strong transcription	Adipose Nuclei	Adipose
23	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:59483000-59504400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:59483200-59508800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr8:59483800-59504400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr8:59483800-59528000	Strong transcription	Dnd41	blood
28	chr8:59484000-59505600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:59484400-59503200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:59484400-59503800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:59484800-59503200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:59484800-59505600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:59489600-59503000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr8:59491200-59504600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:59491600-59505200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:59492200-59503000	Strong transcription	NHLF	lung
37	chr8:59493400-59503000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr8:59493600-59503400	Strong transcription	GM12878-XiMat	blood
39	chr8:59494000-59507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:59494400-59506400	Weak transcription	Colonic Mucosa	Colon
41	chr8:59495200-59512800	Strong transcription	Fetal Muscle Leg	muscle
42	chr8:59495800-59506400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:59496000-59504600	Strong transcription	HSMM	muscle
44	chr8:59496000-59507000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:59496000-59507600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:59496800-59507800	Weak transcription	Small Intestine	intestine
47	chr8:59497000-59503400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:59497800-59503000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:59497800-59503000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:59497800-59503400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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