Variant report

Variant	rs34293080
Chromosome Location	chr8:95908078-95908079
allele	G/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	MAZ	chr8:95907221-95908162	GM12878	blood:	n/a	chr8:95908035-95908044
2	MTA3	chr8:95907017-95908294	GM12878	blood:	n/a	n/a
3	GTF2B	chr8:95907872-95908161	K562	blood:	n/a	n/a
4	POLR2A	chr8:95907924-95908140	A549	lung:	n/a	n/a
5	POLR2A	chr8:95906312-95909423	H1-hESC	embryonic stem cell:	n/a	n/a
6	ETS1	chr8:95907497-95909020	K562	blood:	n/a	chr8:95908173-95908182 chr8:95907701-95907712 chr8:95908906-95908923 chr8:95908948-95908961 chr8:95908401-95908412
7	POLR2A	chr8:95907198-95908148	GM12878	blood:	n/a	n/a
8	MAX	chr8:95906569-95909544	A549	lung:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95906818-95906827 chr8:95908582-95908592 chr8:95908460-95908469
9	MAX	chr8:95907166-95909478	A549	lung:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
10	UBTF	chr8:95906764-95908271	K562	blood:	n/a	n/a
11	POLR2A	chr8:95907047-95909278	PANC-1	pancreas:	n/a	n/a
12	MYC	chr8:95907830-95908488	MCF-7	breast:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908460-95908469
13	CHD2	chr8:95907856-95908198	HepG2	liver:	n/a	n/a
14	YY1	chr8:95907161-95908123	GM12892	blood:	n/a	chr8:95907645-95907659 chr8:95907431-95907445 chr8:95907701-95907710
15	RCOR1	chr8:95907135-95909342	K562	blood:	n/a	n/a
16	FOXA2	chr8:95907694-95908308	A549	lung:	n/a	n/a
17	ZNF143	chr8:95907618-95908268	Hela-S3	cervix:	n/a	chr8:95907651-95907661 chr8:95908099-95908109
18	BCLAF1	chr8:95907626-95908223	GM12878	blood:	n/a	chr8:95907701-95907714 chr8:95908097-95908110
19	POLR2A	chr8:95907701-95908340	GM12878	blood:	n/a	n/a
20	MAX	chr8:95907184-95909283	SK-N-SH	brain:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
21	MAX	chr8:95907287-95909436	K562	blood:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
22	E2F4	chr8:95906680-95909355	Hela-S3	cervix:	n/a	chr8:95908544-95908555 chr8:95908558-95908569 chr8:95907987-95907997 chr8:95906916-95906928 chr8:95907858-95907872 chr8:95907701-95907710 chr8:95906887-95906902 chr8:95907431-95907441 chr8:95907481-95907490 chr8:95908097-95908106 chr8:95907435-95907444 chr8:95909013-95909023
23	CTCF	chr8:95908060-95908210	SAEC	small airway:	n/a	chr8:95908186-95908199
24	MAX	chr8:95907347-95909390	A549	lung:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
25	POLR2A	chr8:95907180-95909192	NB4	blood:	n/a	n/a
26	POLR2A	chr8:95907199-95909071	GM15510	blood:	n/a	n/a
27	YY1	chr8:95907321-95908107	K562	blood:	n/a	chr8:95907645-95907659 chr8:95907431-95907445 chr8:95907701-95907710
28	MAX	chr8:95907272-95909261	GM12878	blood:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
29	TBP	chr8:95907834-95908154	Hela-S3	cervix:	n/a	n/a
30	MAX	chr8:95907049-95909430	HCT-116	colon:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
31	POLR2A	chr8:95907143-95908122	GM18951	blood:	n/a	n/a
32	POLR2A	chr8:95906702-95909571	Hela-S3	cervix:	n/a	n/a
33	HDAC2	chr8:95907828-95908393	K562	blood:	n/a	n/a
34	MAX	chr8:95907470-95908583	K562	blood:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908460-95908469
35	JUND	chr8:95907203-95908348	K562	blood:	n/a	chr8:95907471-95907480 chr8:95907973-95907982
36	ZBTB7A	chr8:95907779-95909157	ECC-1	luminal epithelium:	n/a	chr8:95908081-95908092 chr8:95908588-95908596 chr8:95908416-95908427
37	MYC	chr8:95907257-95909436	K562	blood:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
38	POLR2A	chr8:95907204-95908252	MCF10A-Er-Src	breast:	n/a	n/a
39	SIN3A	chr8:95905721-95909315	H1-hESC	embryonic stem cell:	n/a	chr8:95908237-95908248 chr8:95907214-95907227 chr8:95906806-95906819 chr8:95906987-95906998 chr8:95908097-95908108 chr8:95908761-95908769
40	FOXA2	chr8:95907578-95908280	HepG2	liver:	n/a	n/a
41	HCFC1	chr8:95905561-95909556	Hela-S3	cervix:	n/a	n/a
42	MAX	chr8:95906534-95909453	HepG2	liver:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95906818-95906827 chr8:95908582-95908592 chr8:95908460-95908469
43	RFX5	chr8:95907971-95908156	K562	blood:	n/a	n/a
44	HEY1	chr8:95907726-95908283	HepG2	liver:	n/a	chr8:95908106-95908121
45	BACH1	chr8:95908012-95908113	K562	blood:	n/a	n/a
46	POLR2A	chr8:95907179-95908193	GM12878	blood:	n/a	n/a
47	POLR2A	chr8:95906600-95909154	Raji	blood:	n/a	n/a
48	MAX	chr8:95907178-95909369	Hela-S3	cervix:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
49	POLR2A	chr8:95907176-95909014	GM18526	blood:	n/a	n/a
50	EGR1	chr8:95907762-95908331	K562	blood:	n/a	chr8:95908143-95908156 chr8:95908306-95908316 chr8:95908142-95908157 chr8:95908142-95908152

No.	Distal block	Cell Line	Cell type
1	chr8:95731670..95733358-chr8:95907566..95910332,2	MCF-7	breast:
2	chr8:95839618..95841636-chr8:95906107..95908879,2	K562	blood:
3	chr8:95905635..95908338-chr8:95917636..95919532,2	MCF-7	breast:
4	chr8:95875914..95878170-chr8:95907063..95909574,2	K562	blood:
5	chr8:95907568..95910218-chr8:95952557..95955421,2	MCF-7	breast:
6	chr8:95887298..95889129-chr8:95907558..95909516,2	K562	blood:
7	chr8:95833645..95837522-chr8:95905761..95911691,14	MCF-7	breast:
8	chr8:95907501..95911346-chr8:96279945..96283030,5	MCF-7	breast:
9	chr8:95906811..95909706-chr8:96035495..96039299,4	K562	blood:
10	chr8:95906396..95909110-chr8:96144664..96147276,2	MCF-7	breast:
11	chr8:95833785..95836631-chr8:95907421..95910283,3	K562	blood:
12	chr8:95906455..95910081-chr8:96279389..96281894,5	K562	blood:
13	chr8:95907067..95909461-chr8:97274000..97276051,2	MCF-7	breast:
14	chr8:95833831..95839966-chr8:95906478..95910674,7	K562	blood:
15	chr8:95906302..95910709-chr8:96035472..96039639,10	MCF-7	breast:
16	chr8:95558228..95561115-chr8:95906355..95909204,2	K562	blood:
17	chr8:95833775..95836713-chr8:95905419..95909134,3	MCF-7	breast:
18	chr8:95907392..95910679-chr8:95917896..95921327,5	K562	blood:
19	chr8:95906813..95909487-chr8:96144078..96147982,7	MCF-7	breast:
20	chr8:95907473..95908999-chr8:95992644..95995066,2	K562	blood:
21	chr8:95905045..95910108-chr8:95959761..95963234,8	MCF-7	breast:
22	chr8:95906412..95908805-chr8:96098165..96100293,2	MCF-7	breast:
23	chr8:95905055..95911257-chr8:96032486..96039313,18	MCF-7	breast:
24	chr8:95907099..95910081-chr8:96279389..96285203,6	K562	blood:
25	chr8:95887298..95891353-chr8:95907558..95910406,4	K562	blood:
26	chr8:95906811..95910746-chr8:96036982..96038663,3	K562	blood:
27	chr8:95731040..95733498-chr8:95907170..95908983,2	MCF-7	breast:
28	chr8:95907370..95909639-chr8:95961818..95964122,3	MCF-7	breast:
29	chr8:95907632..95909697-chr8:96084733..96086751,2	MCF-7	breast:
30	chr8:95823792..95825666-chr8:95907097..95909156,2	K562	blood:
31	chr8:95879524..95883023-chr8:95907236..95910668,3	K562	blood:
32	chr8:95906309..95909766-chr8:96145150..96148465,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS8-3	chr8:95908036-95908155	NONHSAT127805

Variant related genes	Relation type
CCNE2	TF binding region
ENSG00000253878	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000238791	Chromatin interaction
ENSG00000212997	Chromatin interaction
ENSG00000156471	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10112447	0.82[EUR][1000 genomes]
rs1011795	0.82[EUR][1000 genomes]
rs1011796	0.82[EUR][1000 genomes]
rs10956928	0.85[ASN][1000 genomes]
rs10956929	0.88[ASN][1000 genomes]
rs10956930	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956931	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956932	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541035	0.93[ASN][1000 genomes]
rs12545596	0.85[ASN][1000 genomes]
rs12548367	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12548999	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2013597	0.82[EUR][1000 genomes]
rs2123647	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2340583	0.85[ASN][1000 genomes]
rs2924477	0.88[ASN][1000 genomes]
rs2924478	0.81[ASN][1000 genomes]
rs2945554	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945563	0.90[ASN][1000 genomes]
rs2956216	0.93[ASN][1000 genomes]
rs3019175	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3019182	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4570121	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735329	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735330	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735331	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735332	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs477653	0.95[ASN][1000 genomes]
rs535322	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs550418	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs550564	0.95[ASN][1000 genomes]
rs551270	0.93[ASN][1000 genomes]
rs61537129	0.92[ASN][1000 genomes]
rs6471501	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs683832	0.95[ASN][1000 genomes]
rs6983000	0.89[ASN][1000 genomes]
rs6987256	0.89[ASN][1000 genomes]
rs6987400	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7001535	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7015841	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7017487	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7820818	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643350	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9643351	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643352	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643353	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95905600-95909200	Active TSS	Brain Substantia Nigra	brain
2	chr8:95905600-95909200	Active TSS	Fetal Brain Female	brain
3	chr8:95905600-95909600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:95905800-95909600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:95905800-95909600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr8:95905800-95909600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:95906000-95909200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:95906000-95909200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr8:95906000-95909200	Active TSS	Right Atrium	heart
10	chr8:95906200-95909200	Active TSS	Fetal Intestine Small	intestine
11	chr8:95906200-95909400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:95906400-95909400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:95906600-95909200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:95906600-95909200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:95906600-95909200	Active TSS	Colon Smooth Muscle	Colon
16	chr8:95906600-95909200	Active TSS	Fetal Intestine Large	intestine
17	chr8:95906600-95909200	Active TSS	Fetal Kidney	kidney
18	chr8:95906600-95909200	Active TSS	Fetal Stomach	stomach
19	chr8:95906600-95909200	Active TSS	Gastric	stomach
20	chr8:95906600-95909200	Active TSS	Left Ventricle	heart
21	chr8:95906600-95909200	Active TSS	Small Intestine	intestine
22	chr8:95906600-95909200	Active TSS	Hela-S3	cervix
23	chr8:95906600-95909400	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr8:95906600-95909400	Active TSS	Right Ventricle	heart
25	chr8:95906600-95909400	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr8:95906600-95909600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:95906800-95908200	Active TSS	HepG2	liver
28	chr8:95906800-95909000	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:95906800-95909000	Active TSS	Primary T cells from cord blood	blood
30	chr8:95906800-95909000	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr8:95906800-95909000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:95906800-95909000	Active TSS	Brain Hippocampus Middle	brain
33	chr8:95906800-95909000	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:95906800-95909000	Active TSS	Rectal Smooth Muscle	rectum
35	chr8:95906800-95909000	Active TSS	GM12878-XiMat	blood
36	chr8:95906800-95909000	Active TSS	HMEC	breast
37	chr8:95906800-95909000	Active TSS	NHEK	skin
38	chr8:95906800-95909000	Active TSS	Osteobl	bone
39	chr8:95906800-95909200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:95906800-95909200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:95906800-95909200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:95906800-95909200	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:95906800-95909200	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr8:95906800-95909200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:95906800-95909200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr8:95906800-95909200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:95906800-95909200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:95906800-95909200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:95906800-95909200	Active TSS	Muscle Satellite Cultured Cells	--
50	chr8:95906800-95909200	Active TSS	Aorta	Aorta

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