Variant report

Variant	rs2599706
Chromosome Location	chr8:96087025-96087026
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	NR2F2	chr8:96086834-96087695	MCF-7	breast:	n/a	n/a
2	HDAC2	chr8:96086838-96087492	HepG2	liver:	n/a	n/a
3	SIN3AK20	chr8:96086877-96087723	MCF-7	breast:	n/a	n/a
4	GATA3	chr8:96086781-96087620	MCF-7	breast:	n/a	n/a
5	HNF4A	chr8:96086990-96087536	HepG2	liver:	n/a	chr8:96087392-96087400
6	TEAD4	chr8:96086496-96087106	K562	blood:	n/a	n/a
7	SPI1	chr8:96086488-96087150	HL-60	blood:	n/a	chr8:96087015-96087028 chr8:96086799-96086808 chr8:96086872-96086885 chr8:96086956-96086963 chr8:96086798-96086811 chr8:96086797-96086810
8	SP1	chr8:96086894-96087554	HepG2	liver:	n/a	n/a
9	MXI1	chr8:96086975-96087535	HepG2	liver:	n/a	n/a
10	MAX	chr8:96086892-96087596	MCF-7	breast:	n/a	n/a
11	EP300	chr8:96086731-96087668	MCF-7	breast:	n/a	n/a
12	CHD2	chr8:96087005-96087340	HepG2	liver:	n/a	n/a
13	FOXA2	chr8:96086689-96087844	HepG2	liver:	n/a	n/a
14	FOXA1	chr8:96086845-96087569	HepG2	liver:	n/a	n/a
15	NFIC	chr8:96087000-96087577	HepG2	liver:	n/a	n/a
16	MAX	chr8:96087011-96087478	HepG2	liver:	n/a	n/a
17	TCF12	chr8:96086954-96087550	A549	lung:	n/a	n/a
18	RAD21	chr8:96086850-96087464	HepG2	liver:	n/a	chr8:96087441-96087450
19	MTA3	chr8:96086344-96087123	GM12878	blood:	n/a	n/a
20	FOXA1	chr8:96086837-96087615	HepG2	liver:	n/a	n/a
21	NR2F2	chr8:96086450-96087656	HepG2	liver:	n/a	n/a
22	CEBPB	chr8:96086913-96087668	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:96086497-96087051	GM12892	blood:	n/a	n/a
24	EP300	chr8:96086864-96087497	HepG2	liver:	n/a	n/a
25	NFIC	chr8:96086455-96087030	GM12878	blood:	n/a	n/a
26	NR2F2	chr8:96086397-96087930	MCF-7	breast:	n/a	n/a
27	TCF12	chr8:96086934-96087591	MCF-7	breast:	n/a	n/a
28	FOXA1	chr8:96086803-96087552	HepG2	liver:	n/a	n/a
29	CEBPB	chr8:96086930-96087726	MCF-7	breast:	n/a	n/a
30	MTA3	chr8:96086423-96087489	GM12878	blood:	n/a	n/a
31	TEAD4	chr8:96086787-96088029	HepG2	liver:	n/a	n/a
32	GATA3	chr8:96086810-96087706	MCF-7	breast:	n/a	n/a
33	CEBPB	chr8:96087012-96087613	HepG2	liver:	n/a	n/a
34	MAX	chr8:96086929-96087610	MCF-7	breast:	n/a	n/a
35	YY1	chr8:96086664-96087047	GM12878	blood:	n/a	chr8:96086864-96086872
36	TCF7L2	chr8:96086911-96087562	HepG2	liver:	n/a	n/a
37	HNF4G	chr8:96086998-96087518	HepG2	liver:	n/a	chr8:96087392-96087400
38	MAFF	chr8:96087011-96087552	HepG2	liver:	n/a	chr8:96087399-96087417
39	POLR2A	chr8:96086583-96087129	GM12892	blood:	n/a	n/a
40	MEF2A	chr8:96086442-96087065	GM12878	blood:	n/a	chr8:96086804-96086825
41	CEBPB	chr8:96086932-96087567	HepG2	liver:	n/a	n/a
42	FOXA2	chr8:96087009-96087481	A549	lung:	n/a	n/a
43	SIN3AK20	chr8:96086715-96087754	MCF-7	breast:	n/a	n/a
44	FOXM1	chr8:96086839-96087696	MCF-7	breast:	n/a	n/a
45	SPI1	chr8:96086525-96087052	HL-60	blood:	n/a	chr8:96087015-96087028 chr8:96086799-96086808 chr8:96086872-96086885 chr8:96086956-96086963 chr8:96086798-96086811 chr8:96086797-96086810
46	SPI1	chr8:96086557-96087063	GM12891	blood:	n/a	chr8:96087015-96087028 chr8:96086799-96086808 chr8:96086872-96086885 chr8:96086956-96086963 chr8:96086798-96086811 chr8:96086797-96086810
47	SPI1	chr8:96086550-96087060	GM12891	blood:	n/a	chr8:96087015-96087028 chr8:96086799-96086808 chr8:96086872-96086885 chr8:96086956-96086963 chr8:96086798-96086811 chr8:96086797-96086810
48	RXRA	chr8:96087024-96087489	HepG2	liver:	n/a	n/a
49	MYBL2	chr8:96086785-96087635	HepG2	liver:	n/a	n/a
50	BHLHE40	chr8:96087020-96087559	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:96085590..96087361-chr8:96143254..96146025,2	K562	blood:
2	chr8:96085826..96087704-chr8:96156110..96158693,2	MCF-7	breast:
3	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
4	chr8:96085236..96087766-chr9:140513238..140514849,2	MCF-7	breast:
5	chr8:96086858..96087869-chr8:96145769..96146547,3	MCF-7	breast:
6	chr8:96086411..96088637-chr8:96175258..96177265,2	MCF-7	breast:
7	chr8:96086865..96087716-chr8:96235978..96236892,2	MCF-7	breast:
8	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:
9	chr8:96087016..96088619-chr8:96092629..96094625,2	K562	blood:
10	chr8:96037342..96039267-chr8:96086128..96088306,2	MCF-7	breast:
11	chr8:96086982..96089497-chr8:96096571..96099137,3	K562	blood:
12	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
13	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
14	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:

Variant related genes	Relation type
MIR3150A	TF binding region
ENSG00000156172	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000203993	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000181090	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11776091	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2678841	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs297550	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6471516	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7008499	0.86[AMR][1000 genomes];0.83[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96081600-96087800	Weak transcription	A549	lung
3	chr8:96084400-96087400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr8:96084800-96088400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:96085000-96087200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr8:96085200-96087400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr8:96085600-96088600	Enhancers	Stomach Mucosa	stomach
8	chr8:96085600-96098200	Weak transcription	Gastric	stomach
9	chr8:96085800-96087200	Weak transcription	Ovary	ovary
10	chr8:96085800-96088600	Enhancers	Liver	Liver
11	chr8:96085800-96089200	Weak transcription	HMEC	breast
12	chr8:96085800-96089800	Weak transcription	Spleen	Spleen
13	chr8:96086000-96087200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:96086000-96087800	Weak transcription	Lung	lung
15	chr8:96086000-96087800	Weak transcription	NHEK	skin
16	chr8:96086000-96088000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:96086000-96088600	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:96086000-96088600	Weak transcription	Colonic Mucosa	Colon
19	chr8:96086000-96088800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:96086000-96092200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:96086000-96098200	Weak transcription	Thymus	Thymus
22	chr8:96086200-96087400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:96086400-96088200	Enhancers	Pancreas	Pancrea
24	chr8:96086600-96087200	Flanking Active TSS	HepG2	liver
25	chr8:96086600-96087600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:96086600-96088600	Enhancers	K562	blood
27	chr8:96086600-96088800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:96086800-96088000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr8:96086800-96088200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:96086800-96088200	Enhancers	Brain Anterior Caudate	brain
31	chr8:96086800-96088800	Enhancers	Primary B cells from peripheral blood	blood
32	chr8:96087000-96087200	Enhancers	Fetal Lung	lung
33	chr8:96087000-96087200	Enhancers	GM12878-XiMat	blood
34	chr8:96087000-96087400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:96087000-96087400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:96087000-96087800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:96087000-96088000	Enhancers	Brain Angular Gyrus	brain
38	chr8:96087000-96088000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:96087000-96088200	Enhancers	Brain Hippocampus Middle	brain
40	chr8:96087000-96088200	Enhancers	Brain Substantia Nigra	brain
41	chr8:96087000-96088200	Enhancers	Fetal Muscle Leg	muscle
42	chr8:96087000-96088600	Enhancers	Brain Cingulate Gyrus	brain
43	chr8:96087000-96088800	Enhancers	Fetal Intestine Large	intestine
44	chr8:96087000-96088800	Enhancers	Placenta	Placenta

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