Variant report

Variant	rs59478650
Chromosome Location	chr8:130861282-130861283
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	MYC	chr8:130860954-130861492	MCF10A-Er-Src	breast:	n/a	chr8:130861438-130861447
2	FOSL2	chr8:130860907-130861544	SK-N-SH	brain:	n/a	chr8:130861195-130861203 chr8:130861195-130861202
3	SP1	chr8:130860871-130861525	A549	lung:	n/a	n/a
4	FOS	chr8:130861020-130861438	HUVEC	blood vessel:	n/a	chr8:130861195-130861203 chr8:130861195-130861202
5	E2F4	chr8:130861011-130861395	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr8:130860982-130861685	MCF10A-Er-Src	breast:	n/a	chr8:130861241-130861264 chr8:130861203-130861211
7	STAT3	chr8:130860790-130861374	MCF10A-Er-Src	breast:	n/a	chr8:130861241-130861264 chr8:130861203-130861211
8	TCF7L2	chr8:130860837-130861949	Hela-S3	cervix:	n/a	chr8:130861865-130861881 chr8:130861289-130861299 chr8:130861869-130861878 chr8:130861285-130861301 chr8:130861868-130861877 chr8:130861869-130861879 chr8:130861288-130861297 chr8:130861866-130861880 chr8:130861286-130861300 chr8:130861285-130861301 chr8:130861865-130861881
9	EP300	chr8:130861131-130861371	SK-N-SH_RA	brain:	n/a	n/a
10	POLR2A	chr8:130861041-130861414	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr8:130861010-130861477	MCF10A-Er-Src	breast:	n/a	chr8:130861195-130861203 chr8:130861195-130861202
12	POLR2A	chr8:130861060-130861375	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr8:130860986-130861451	MCF10A-Er-Src	breast:	n/a	chr8:130861195-130861203 chr8:130861195-130861202
14	NFIC	chr8:130860837-130861527	SK-N-SH	brain:	n/a	n/a
15	CEBPB	chr8:130861085-130861407	IMR90	lung:	n/a	chr8:130861232-130861243 chr8:130861230-130861243
16	EP300	chr8:130861021-130861414	Hela-S3	cervix:	n/a	n/a
17	TCF7L2	chr8:130861152-130861469	Hela-S3	cervix:	n/a	chr8:130861289-130861299 chr8:130861285-130861301 chr8:130861288-130861297 chr8:130861286-130861300 chr8:130861285-130861301
18	GATA3	chr8:130860901-130861538	SK-N-SH	brain:	n/a	chr8:130861206-130861217
19	TCF7L2	chr8:130860872-130862115	PANC-1	pancreas:	n/a	chr8:130861865-130861881 chr8:130861289-130861299 chr8:130861869-130861878 chr8:130861285-130861301 chr8:130861868-130861877 chr8:130861869-130861879 chr8:130861288-130861297 chr8:130861866-130861880 chr8:130861286-130861300 chr8:130861285-130861301 chr8:130861865-130861881
20	STAT3	chr8:130861008-130861622	MCF10A-Er-Src	breast:	n/a	chr8:130861241-130861264 chr8:130861203-130861211
21	GATA2	chr8:130860960-130861458	HUVEC	blood vessel:	n/a	chr8:130861206-130861217
22	POLR2A	chr8:130861220-130861435	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr8:130860980-130861408	SK-N-SH	brain:	n/a	n/a
24	FOS	chr8:130860979-130861420	Hela-S3	cervix:	n/a	chr8:130861195-130861203 chr8:130861195-130861202
25	REST	chr8:130861021-130861601	A549	lung:	n/a	n/a
26	FOSL2	chr8:130860982-130861540	A549	lung:	n/a	chr8:130861195-130861203 chr8:130861195-130861202
27	TCF12	chr8:130860802-130861630	SK-N-SH	brain:	n/a	n/a
28	RFX5	chr8:130861030-130861394	Hela-S3	cervix:	n/a	n/a
29	GATA3	chr8:130860835-130861541	SK-N-SH	brain:	n/a	chr8:130861206-130861217
30	NFIC	chr8:130860954-130861423	SK-N-SH	brain:	n/a	n/a
31	MYC	chr8:130860984-130861514	MCF10A-Er-Src	breast:	n/a	chr8:130861438-130861447
32	FOS	chr8:130860931-130861945	MCF10A-Er-Src	breast:	n/a	chr8:130861195-130861203 chr8:130861195-130861202
33	STAT3	chr8:130861019-130861662	MCF10A-Er-Src	breast:	n/a	chr8:130861241-130861264 chr8:130861203-130861211
34	EP300	chr8:130860906-130861589	SK-N-SH	brain:	n/a	n/a
35	GATA3	chr8:130860870-130861318	T-47D	breast:	n/a	chr8:130861206-130861217
36	TCF12	chr8:130860835-130861615	A549	lung:	n/a	n/a
37	FOS	chr8:130860939-130861746	MCF10A-Er-Src	breast:	n/a	chr8:130861195-130861203 chr8:130861195-130861202
38	EP300	chr8:130860869-130861356	T-47D	breast:	n/a	n/a
39	MEF2A	chr8:130860981-130861553	SK-N-SH	brain:	n/a	chr8:130861224-130861233 chr8:130861219-130861240 chr8:130861219-130861240 chr8:130861223-130861234
40	CEBPB	chr8:130860999-130861512	Hela-S3	cervix:	n/a	chr8:130861232-130861243 chr8:130861230-130861243

Variant related genes	Relation type
FAM49B	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2086642	1.00[AMR][1000 genomes]
rs6990423	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6993757	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007654	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7846233	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
2	chr8:130845600-130882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:130846000-130882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:130846400-130881800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:130847800-130863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:130850200-130862200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:130850200-130863600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:130850200-130864200	Weak transcription	Small Intestine	intestine
9	chr8:130850800-130884000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:130851000-130883800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:130851200-130878600	Weak transcription	Ovary	ovary
12	chr8:130851400-130868000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:130851800-130861800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:130851800-130875400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:130852000-130867200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:130852000-130868000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:130852000-130875200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr8:130852000-130878600	Strong transcription	Fetal Thymus	thymus
20	chr8:130852000-130879400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:130852000-130883800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:130852200-130861800	Weak transcription	Brain Anterior Caudate	brain
23	chr8:130852200-130861800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:130852200-130862200	Weak transcription	Fetal Brain Male	brain
25	chr8:130852200-130862200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:130852200-130863200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:130852200-130863200	Weak transcription	Brain Germinal Matrix	brain
28	chr8:130852200-130863400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:130852200-130863400	Weak transcription	Esophagus	oesophagus
30	chr8:130852200-130868000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:130852200-130868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:130852200-130868600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:130852200-130883800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr8:130852400-130862000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:130852400-130862200	Weak transcription	Fetal Brain Female	brain
36	chr8:130852400-130862800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:130852600-130861400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:130852600-130861800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:130852600-130862600	Weak transcription	Fetal Lung	lung
40	chr8:130852600-130867600	Strong transcription	Adipose Nuclei	Adipose
41	chr8:130852600-130868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:130852600-130872200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:130853000-130862200	Weak transcription	Psoas Muscle	Psoas
44	chr8:130853000-130870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:130853200-130870200	Weak transcription	Aorta	Aorta
46	chr8:130853400-130861800	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:130853400-130861800	Weak transcription	Spleen	Spleen
48	chr8:130854000-130878800	Weak transcription	Colonic Mucosa	Colon
49	chr8:130854200-130861800	Weak transcription	HepG2	liver
50	chr8:130854400-130864000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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