Variant report

Variant	rs2074593
Chromosome Location	chr8:91013366-91013367
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	USF2	chr8:91013093-91013513	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:91013014-91014273	K562	blood:	n/a	n/a
3	POLR2A	chr8:91013134-91013990	A549	lung:	n/a	n/a
4	POLR2A	chr8:91013002-91013861	GM12891	blood:	n/a	n/a
5	TAF1	chr8:91013054-91014024	K562	blood:	n/a	n/a
6	E2F4	chr8:91013134-91013789	MCF10A-Er-Src	breast:	n/a	chr8:91013658-91013670
7	POLR2A	chr8:91012876-91013925	GM12892	blood:	n/a	n/a
8	TBP	chr8:91012874-91013761	GM12878	blood:	n/a	n/a
9	NFIC	chr8:91012951-91013573	HepG2	liver:	n/a	n/a
10	HEY1	chr8:91012958-91013891	HepG2	liver:	n/a	chr8:91013534-91013549
11	ELF1	chr8:91013045-91013803	HepG2	liver:	n/a	n/a
12	USF2	chr8:91013099-91013737	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr8:91012973-91013972	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:91012981-91014787	GM19099	blood:	n/a	n/a
15	TBP	chr8:91012951-91014800	K562	blood:	n/a	n/a
16	CTCF	chr8:91013030-91013767	GM19238	blood:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
17	CTCF	chr8:91013340-91013490	GM12867	blood:	n/a	n/a
18	GTF3C2	chr8:91012900-91013585	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr8:91012908-91015027	PBDE	blood:	n/a	n/a
20	MAX	chr8:91012818-91013988	A549	lung:	n/a	n/a
21	POLR2A	chr8:91013037-91013944	GM12891	blood:	n/a	n/a
22	GATA3	chr8:91012718-91013799	T-47D	breast:	n/a	n/a
23	MAX	chr8:91012986-91013826	K562	blood:	n/a	n/a
24	E2F6	chr8:91013004-91013781	A549	lung:	n/a	chr8:91013658-91013670
25	CTCF	chr8:91013019-91013862	H1-hESC	embryonic stem cell:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
26	BRCA1	chr8:91012833-91013826	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr8:91012921-91013900	HCT-116	colon:	n/a	n/a
28	POLR2A	chr8:91013102-91014065	HepG2	liver:	n/a	n/a
29	POLR2A	chr8:91013182-91014225	GM10847	blood:	n/a	n/a
30	TCF7L2	chr8:91013017-91014233	HCT-116	colon:	n/a	chr8:91013646-91013656
31	TCF7L2	chr8:91013036-91014653	Hela-S3	cervix:	n/a	chr8:91013646-91013656
32	RAD21	chr8:91012769-91013993	MCF-7	breast:	n/a	chr8:91013663-91013673
33	TCF12	chr8:91012864-91014064	ECC-1	luminal epithelium:	n/a	chr8:91013043-91013052
34	CTCF	chr8:91012861-91013960	K562	blood:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
35	TAF1	chr8:91013068-91013407	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr8:91012888-91013853	K562	blood:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
37	TAF7	chr8:91013141-91013823	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYBL2	chr8:91012885-91013803	HepG2	liver:	n/a	n/a
39	SIN3A	chr8:91013016-91014418	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAL1	chr8:91012853-91013784	K562	blood:	n/a	n/a
41	MAX	chr8:91013021-91013820	SK-N-SH	brain:	n/a	n/a
42	RUNX3	chr8:91012930-91013958	GM12878	blood:	n/a	n/a
43	JUND	chr8:91012991-91013893	K562	blood:	n/a	n/a
44	MXI1	chr8:91012974-91013883	Hela-S3	cervix:	n/a	n/a
45	RCOR1	chr8:91012886-91013908	GM12878	blood:	n/a	n/a
46	EP300	chr8:91012911-91013654	GM12878	blood:	n/a	chr8:91013162-91013178 chr8:91013093-91013103
47	CREB1	chr8:91013025-91013831	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr8:91012918-91013887	MCF-7	breast:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
49	GTF2F1	chr8:91013012-91013740	K562	blood:	n/a	n/a
50	TRIM28	chr8:91013043-91013826	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:91012176..91015175-chr8:91997197..91999133,2	K562	blood:
2	chr8:90995904..90996521-chr8:91012720..91013451,2	MCF-7	breast:
3	chr8:91012735..91013523-chr8:91521856..91522741,6	MCF-7	breast:
4	chr8:90995093..90997814-chr8:91010770..91014611,5	MCF-7	breast:
5	chr19:19729717..19731294-chr8:91013062..91014796,2	MCF-7	breast:
6	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
7	chr8:91011918..91015233-chr8:91657389..91660471,3	K562	blood:
8	chr8:71315651..71316239-chr8:91013283..91014162,2	HCT-116	colon:
9	chr8:91012457..91016466-chr8:91233540..91237741,4	K562	blood:
10	chr8:90995516..90998828-chr8:91010778..91014105,5	K562	blood:
11	chr8:90996289..90998136-chr8:91010778..91015164,5	K562	blood:
12	chr8:90914281..90916675-chr8:91011002..91013854,2	MCF-7	breast:
13	chr8:91012528..91015432-chr8:91026705..91029174,2	MCF-7	breast:
14	chr8:91011649..91013429-chr8:91657452..91659731,3	MCF-7	breast:

Variant related genes	Relation type
DECR1	TF binding region
ENSG00000104320	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000253394	Chromatin interaction
ENSG00000105717	Chromatin interaction
ENSG00000140396	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1011682	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1011683	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1061302	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1063045	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956375	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956427	0.82[EUR][1000 genomes]
rs10956431	0.88[EUR][1000 genomes]
rs11778638	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12550313	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12677527	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12680903	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13264478	0.89[EUR][1000 genomes]
rs13265193	0.89[EUR][1000 genomes]
rs13275276	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13278453	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13312842	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13312935	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476590	0.82[EUR][1000 genomes]
rs1805786	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805790	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805791	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805792	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805794	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805795	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805797	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805799	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805800	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805803	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805806	0.83[EUR][1000 genomes]
rs1805807	0.83[EUR][1000 genomes]
rs1805808	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805809	0.84[EUR][1000 genomes]
rs1805817	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805818	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805844	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805864	0.83[EUR][1000 genomes]
rs1805865	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1805868	0.82[EUR][1000 genomes]
rs1805869	0.83[EUR][1000 genomes]
rs1805889	0.82[EUR][1000 genomes]
rs2072656	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2073635	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074596	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2097825	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2107465	0.81[EUR][1000 genomes]
rs2107466	0.82[EUR][1000 genomes]
rs2142093	0.80[EUR][1000 genomes]
rs2142094	0.80[EUR][1000 genomes]
rs2189618	0.82[EUR][1000 genomes]
rs2234744	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267543	0.87[EUR][1000 genomes]
rs2280780	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2293774	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2308962	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2339025	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3026265	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3026276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34394839	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3736639	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4961165	0.82[EUR][1000 genomes]
rs4961166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4961167	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4961169	0.82[EUR][1000 genomes]
rs58579435	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61427172	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470523	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470524	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6985793	0.80[EUR][1000 genomes]
rs6987873	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990969	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6991811	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6993054	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7006322	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7011299	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012846	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7018118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71528733	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72671845	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs741777	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7463645	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7816839	0.87[EUR][1000 genomes]
rs7822272	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7822950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829246	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7832009	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs926092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9650098	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9792335	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2074593	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91012600-91013400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:91012800-91013400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:91012800-91013400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr8:91012800-91013600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:91012800-91014400	Active TSS	Fetal Brain Female	brain
6	chr8:91012800-91014600	Active TSS	Monocytes-CD14+_RO01746	blood
7	chr8:91012800-91014800	Active TSS	Fetal Brain Male	brain
8	chr8:91012800-91015000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:91012800-91015200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:91012800-91015200	Active TSS	Thymus	Thymus
11	chr8:91013000-91013400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr8:91013000-91013400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:91013000-91013400	Active TSS	HepG2	liver
14	chr8:91013000-91013600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr8:91013000-91013600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:91013000-91013600	Flanking Active TSS	HMEC	breast
17	chr8:91013000-91014200	Active TSS	Primary B cells from cord blood	blood
18	chr8:91013000-91014400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:91013000-91014400	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr8:91013000-91014400	Active TSS	Brain Germinal Matrix	brain
21	chr8:91013000-91014400	Active TSS	Fetal Kidney	kidney
22	chr8:91013000-91014600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:91013000-91014600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:91013000-91014600	Active TSS	Brain Cingulate Gyrus	brain
25	chr8:91013000-91014600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr8:91013000-91014600	Active TSS	Hela-S3	cervix
27	chr8:91013000-91014800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr8:91013000-91014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:91013000-91014800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:91013000-91014800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr8:91013000-91014800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:91013000-91014800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:91013000-91014800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr8:91013000-91014800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:91013000-91014800	Active TSS	Brain Substantia Nigra	brain
36	chr8:91013000-91014800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:91013000-91014800	Active TSS	Fetal Muscle Trunk	muscle
38	chr8:91013000-91014800	Active TSS	Stomach Mucosa	stomach
39	chr8:91013000-91015000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr8:91013000-91015000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:91013000-91015000	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr8:91013000-91015000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:91013000-91015000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:91013000-91015000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:91013000-91015000	Active TSS	Brain Angular Gyrus	brain
46	chr8:91013000-91015000	Active TSS	Colon Smooth Muscle	Colon
47	chr8:91013000-91015000	Active TSS	Fetal Muscle Leg	muscle
48	chr8:91013000-91015000	Active TSS	Right Ventricle	heart
49	chr8:91013000-91015000	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr8:91013000-91015200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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