Variant report

Variant	rs2599704
Chromosome Location	chr8:96087473-96087474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

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	TCF12	chr8:96087075-96087493	HepG2	liver:	n/a	n/a
5	GATA3	chr8:96086781-96087620	MCF-7	breast:	n/a	n/a
6	GATA3	chr8:96087086-96087531	MCF-7	breast:	n/a	n/a
7	HNF4A	chr8:96086990-96087536	HepG2	liver:	n/a	chr8:96087392-96087400
8	SP1	chr8:96086894-96087554	HepG2	liver:	n/a	n/a
9	MXI1	chr8:96086975-96087535	HepG2	liver:	n/a	n/a
10	FOXA1	chr8:96087125-96087473	T-47D	breast:	n/a	n/a
11	MAX	chr8:96086892-96087596	MCF-7	breast:	n/a	n/a
12	EP300	chr8:96086731-96087668	MCF-7	breast:	n/a	n/a
13	FOXA2	chr8:96086689-96087844	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:96087034-96087527	HepG2	liver:	n/a	n/a
15	FOXA1	chr8:96086845-96087569	HepG2	liver:	n/a	n/a
16	NFIC	chr8:96087000-96087577	HepG2	liver:	n/a	n/a
17	MAX	chr8:96087011-96087478	HepG2	liver:	n/a	n/a
18	MAFK	chr8:96087124-96087530	HepG2	liver:	n/a	n/a
19	TCF12	chr8:96086954-96087550	A549	lung:	n/a	n/a
20	JUND	chr8:96087051-96087511	HepG2	liver:	n/a	n/a
21	FOXA1	chr8:96086837-96087615	HepG2	liver:	n/a	n/a
22	NR2F2	chr8:96086450-96087656	HepG2	liver:	n/a	n/a
23	RAD21	chr8:96087083-96087522	HepG2	liver:	n/a	chr8:96087441-96087450
24	CEBPB	chr8:96087115-96087504	HepG2	liver:	n/a	n/a
25	CEBPB	chr8:96086913-96087668	MCF-7	breast:	n/a	n/a
26	ESR1	chr8:96087106-96087481	ECC-1	luminal epithelium:	n/a	n/a
27	HDAC2	chr8:96087053-96087564	MCF-7	breast:	n/a	n/a
28	EP300	chr8:96086864-96087497	HepG2	liver:	n/a	n/a
29	NR2F2	chr8:96086397-96087930	MCF-7	breast:	n/a	n/a
30	TCF12	chr8:96086934-96087591	MCF-7	breast:	n/a	n/a
31	ESR1	chr8:96087125-96087562	ECC-1	luminal epithelium:	n/a	n/a
32	FOXA1	chr8:96086803-96087552	HepG2	liver:	n/a	n/a
33	ESR1	chr8:96087111-96087486	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr8:96086930-96087726	MCF-7	breast:	n/a	n/a
35	MTA3	chr8:96086423-96087489	GM12878	blood:	n/a	n/a
36	TEAD4	chr8:96086787-96088029	HepG2	liver:	n/a	n/a
37	GATA3	chr8:96086810-96087706	MCF-7	breast:	n/a	n/a
38	CEBPB	chr8:96087012-96087613	HepG2	liver:	n/a	n/a
39	MAX	chr8:96086929-96087610	MCF-7	breast:	n/a	n/a
40	HNF4A	chr8:96087035-96087496	HepG2	liver:	n/a	chr8:96087392-96087400
41	TCF7L2	chr8:96086911-96087562	HepG2	liver:	n/a	n/a
42	HNF4G	chr8:96086998-96087518	HepG2	liver:	n/a	chr8:96087392-96087400
43	MAFF	chr8:96087011-96087552	HepG2	liver:	n/a	chr8:96087399-96087417
44	CEBPB	chr8:96086932-96087567	HepG2	liver:	n/a	n/a
45	FOXA2	chr8:96087009-96087481	A549	lung:	n/a	n/a
46	SIN3AK20	chr8:96086715-96087754	MCF-7	breast:	n/a	n/a
47	FOXM1	chr8:96086839-96087696	MCF-7	breast:	n/a	n/a
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 data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96085826..96087704-chr8:96156110..96158693,2	MCF-7	breast:
2	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
3	chr8:96085236..96087766-chr9:140513238..140514849,2	MCF-7	breast:
4	chr8:96086858..96087869-chr8:96145769..96146547,3	MCF-7	breast:
5	chr8:95962267..95964815-chr8:96087157..96088833,2	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	chr8:96087095..96087873-chr8:96108293..96109051,2	MCF-7	breast:
13	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
14	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
15	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:

No data

Variant related genes	Relation type
MIR3150A	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000203993	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000181090	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11778995	0.88[ASN][1000 genomes]
rs11785698	0.86[CHB][hapmap];0.87[CHD][hapmap];0.80[GIH][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs1878736	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1996500	0.82[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2044899	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2119588	0.85[CEU][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs2165496	0.85[EUR][1000 genomes]
rs2165497	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2599701	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2599702	0.85[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2599703	0.85[CEU][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2599705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678825	0.85[CEU][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2678826	0.85[CEU][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2678839	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2678840	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28416970	0.86[ASN][1000 genomes]
rs2923814	0.83[ASW][hapmap];0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945565	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2945566	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34824997	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4379417	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs4641029	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471509	0.86[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs6471510	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6471513	0.85[CEU][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs6471514	0.85[CEU][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6471515	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6980872	0.88[ASN][1000 genomes]
rs6982086	0.86[CHB][hapmap];0.87[CHD][hapmap];0.80[GIH][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs7002090	0.86[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs7011768	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7011919	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs966459	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs9720421	0.90[EUR][1000 genomes];0.83[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	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:41 , 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	chr8:96084800-96088400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:96085600-96088600	Enhancers	Stomach Mucosa	stomach
5	chr8:96085600-96098200	Weak transcription	Gastric	stomach
6	chr8:96085800-96088600	Enhancers	Liver	Liver
7	chr8:96085800-96089200	Weak transcription	HMEC	breast
8	chr8:96085800-96089800	Weak transcription	Spleen	Spleen
9	chr8:96086000-96087800	Weak transcription	Lung	lung
10	chr8:96086000-96087800	Weak transcription	NHEK	skin
11	chr8:96086000-96088000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:96086000-96088600	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:96086000-96088600	Weak transcription	Colonic Mucosa	Colon
14	chr8:96086000-96088800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:96086000-96092200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:96086000-96098200	Weak transcription	Thymus	Thymus
17	chr8:96086400-96088200	Enhancers	Pancreas	Pancrea
18	chr8:96086600-96087600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:96086600-96088600	Enhancers	K562	blood
20	chr8:96086600-96088800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:96086800-96088000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr8:96086800-96088200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:96086800-96088200	Enhancers	Brain Anterior Caudate	brain
24	chr8:96086800-96088800	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:96087000-96087800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:96087000-96088000	Enhancers	Brain Angular Gyrus	brain
27	chr8:96087000-96088000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:96087000-96088200	Enhancers	Brain Hippocampus Middle	brain
29	chr8:96087000-96088200	Enhancers	Brain Substantia Nigra	brain
30	chr8:96087000-96088200	Enhancers	Fetal Muscle Leg	muscle
31	chr8:96087000-96088600	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:96087000-96088800	Enhancers	Fetal Intestine Large	intestine
33	chr8:96087000-96088800	Enhancers	Placenta	Placenta
34	chr8:96087200-96087600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:96087200-96088200	Enhancers	Ovary	ovary
36	chr8:96087200-96088800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr8:96087200-96088800	Enhancers	HepG2	liver
38	chr8:96087200-96089400	Weak transcription	GM12878-XiMat	blood
39	chr8:96087400-96088000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:96087400-96088600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr8:96087400-96091200	Enhancers	Primary B cells from cord blood	blood

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