Variant report

Variant	rs7822950
Chromosome Location	chr8:91012828-91012829
allele	A/C
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	GATA3	chr8:91012722-91013353	T-47D	breast:	n/a	n/a
2	MAX	chr8:91012818-91013988	A549	lung:	n/a	n/a
3	GATA3	chr8:91012718-91013799	T-47D	breast:	n/a	n/a
4	RAD21	chr8:91012769-91013993	MCF-7	breast:	n/a	chr8:91013663-91013673
5	SIN3AK20	chr8:91012321-91014764	MCF-7	breast:	n/a	n/a
6	CTCF	chr8:91012821-91013977	HCT-116	colon:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
7	CTCF	chr8:91012694-91014038	HCT-116	colon:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
8	ELF1	chr8:91012770-91014426	MCF-7	breast:	n/a	n/a
9	FOXA2	chr8:91012803-91013384	A549	lung:	n/a	n/a
10	ESR1	chr8:91012749-91013229	T-47D	breast:	n/a	n/a
11	FOXA1	chr8:91012672-91013260	T-47D	breast:	n/a	chr8:91013088-91013103 chr8:91013041-91013056
12	FOXM1	chr8:91012809-91013900	GM12878	blood:	n/a	n/a
13	EBF1	chr8:91012744-91013734	GM12878	blood:	n/a	n/a
14	RAD21	chr8:91012822-91014861	SK-N-SH	brain:	n/a	chr8:91013663-91013673
15	MAX	chr8:91012772-91014297	MCF-7	breast:	n/a	n/a
16	CTCF	chr8:91012578-91014011	A549	lung:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
17	SMC3	chr8:91012704-91013919	SK-N-SH	brain:	n/a	chr8:91013663-91013673
18	GATA3	chr8:91012600-91014378	MCF-7	breast:	n/a	n/a
19	E2F6	chr8:91012823-91013952	A549	lung:	n/a	chr8:91013658-91013670
20	CTCF	chr8:91012792-91014048	SK-N-SH	brain:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
21	MXI1	chr8:91012391-91014935	SK-N-SH	brain:	n/a	n/a
22	FOXA1	chr8:91012785-91013315	HepG2	liver:	n/a	chr8:91013088-91013103 chr8:91013041-91013056
23	GATA3	chr8:91012545-91014433	MCF-7	breast:	n/a	n/a
24	FOXA1	chr8:91012811-91013284	T-47D	breast:	n/a	chr8:91013088-91013103 chr8:91013041-91013056
25	MAX	chr8:91012812-91014157	HCT-116	colon:	n/a	n/a
26	GATA1	chr8:91012561-91013882	PBDE	blood:	n/a	n/a
27	SIX5	chr8:91012768-91013880	A549	lung:	n/a	n/a
28	SRF	chr8:91012799-91014336	MCF-7	breast:	n/a	n/a
29	RAD21	chr8:91012789-91014010	HCT-116	colon:	n/a	chr8:91013663-91013673
30	MAX	chr8:91012761-91014818	MCF-7	breast:	n/a	chr8:91014317-91014325
31	PML	chr8:91012810-91014119	MCF-7	breast:	n/a	n/a
32	HDAC2	chr8:91012811-91014822	MCF-7	breast:	n/a	chr8:91014697-91014711
33	CTCF	chr8:91012768-91014281	MCF-7	breast:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
34	POLR2A	chr8:91012826-91014113	U87	brain:	n/a	n/a
35	GABPA	chr8:91012738-91014441	MCF-7	breast:	n/a	chr8:91013423-91013432
36	MXI1	chr8:91012810-91014909	IMR90	lung:	n/a	n/a
37	MAX	chr8:91012770-91014111	A549	lung:	n/a	n/a
38	RAD21	chr8:91012808-91014268	HCT-116	colon:	n/a	chr8:91013663-91013673
39	TEAD4	chr8:91012805-91013923	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:91011585..91013133-chr8:91244828..91247817,2	K562	blood:
2	chr8:91012176..91015175-chr8:91997197..91999133,2	K562	blood:
3	chr8:90995904..90996521-chr8:91012720..91013451,2	MCF-7	breast:
4	chr8:91012735..91013523-chr8:91521856..91522741,6	MCF-7	breast:
5	chr8:90995093..90997814-chr8:91010770..91014611,5	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	chr8:91012457..91016466-chr8:91233540..91237741,4	K562	blood:
9	chr8:90995516..90998828-chr8:91010778..91014105,5	K562	blood:
10	chr8:90996289..90998136-chr8:91010778..91015164,5	K562	blood:
11	chr8:90914281..90916675-chr8:91011002..91013854,2	MCF-7	breast:
12	chr8:91012528..91015432-chr8:91026705..91029174,2	MCF-7	breast:
13	chr8:91011649..91013429-chr8:91657452..91659731,3	MCF-7	breast:

Variant related genes	Relation type
DECR1	TF binding region
ENSG00000104320	Chromatin interaction
ENSG00000253394	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000180694	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]
rs2074593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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]
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
rs7822950	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91007600-91013200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:91010000-91013200	Weak transcription	Left Ventricle	heart
3	chr8:91011600-91013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:91012200-91013000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:91012200-91013000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:91012200-91013000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:91012200-91013000	Enhancers	NHDF-Ad	bronchial
8	chr8:91012200-91013200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:91012200-91013200	Enhancers	HUVEC	blood vessel
10	chr8:91012400-91013000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:91012400-91013000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:91012400-91013000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:91012400-91013000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:91012400-91013000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:91012400-91013000	Enhancers	Brain Substantia Nigra	brain
16	chr8:91012400-91013000	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:91012400-91013000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:91012400-91013000	Enhancers	Fetal Intestine Small	intestine
19	chr8:91012400-91013000	Enhancers	Fetal Lung	lung
20	chr8:91012400-91013000	Enhancers	Fetal Muscle Leg	muscle
21	chr8:91012400-91013000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:91012400-91013000	Enhancers	Stomach Mucosa	stomach
23	chr8:91012400-91013000	Enhancers	Dnd41	blood
24	chr8:91012400-91013000	Enhancers	HMEC	breast
25	chr8:91012400-91013000	Enhancers	HSMM	muscle
26	chr8:91012400-91013000	Enhancers	HSMMtube	muscle
27	chr8:91012400-91013000	Enhancers	NH-A	brain
28	chr8:91012400-91013000	Enhancers	Osteobl	bone
29	chr8:91012400-91013200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:91012400-91013200	Enhancers	Fetal Stomach	stomach
31	chr8:91012400-91013200	Enhancers	Fetal Thymus	thymus
32	chr8:91012600-91013000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:91012600-91013000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:91012600-91013000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:91012600-91013000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:91012600-91013000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:91012600-91013000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:91012600-91013000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr8:91012600-91013000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:91012600-91013000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr8:91012600-91013000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:91012600-91013000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr8:91012600-91013000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr8:91012600-91013000	Enhancers	Hela-S3	cervix
45	chr8:91012600-91013200	Enhancers	Primary B cells from peripheral blood	blood
46	chr8:91012600-91013200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:91012600-91013200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:91012600-91013200	Enhancers	Liver	Liver
49	chr8:91012600-91013200	Enhancers	NHLF	lung
50	chr8:91012600-91013400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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