Variant report

Variant	rs4714059
Chromosome Location	chr6:37321791-37321792
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	MAX	chr6:37321451-37322113	K562	blood:	n/a	chr6:37322093-37322103
2	POLR2A	chr6:37321534-37321941	HepG2	liver:	n/a	n/a
3	ZBTB33	chr6:37321580-37321968	HCT-116	colon:	n/a	n/a
4	POLR2A	chr6:37321525-37322028	GM12891	blood:	n/a	n/a
5	POLR2A	chr6:37321687-37321951	K562	blood:	n/a	n/a
6	POLR2A	chr6:37321544-37322518	K562	blood:	n/a	n/a
7	POLR2A	chr6:37321487-37322138	Hela-S3	cervix:	n/a	n/a
8	TEAD4	chr6:37321402-37322008	K562	blood:	n/a	n/a
9	RCOR1	chr6:37321520-37322030	K562	blood:	n/a	n/a
10	YY1	chr6:37321571-37322301	ECC-1	luminal epithelium:	n/a	n/a
11	PML	chr6:37321229-37322116	GM12878	blood:	n/a	n/a
12	FOXM1	chr6:37321630-37322052	GM12878	blood:	n/a	n/a
13	POU2F2	chr6:37321595-37322103	GM12878	blood:	n/a	n/a
14	UBTF	chr6:37321534-37322780	K562	blood:	n/a	n/a
15	YY1	chr6:37321645-37322133	GM12891	blood:	n/a	n/a
16	ZBTB7A	chr6:37321595-37322330	ECC-1	luminal epithelium:	n/a	n/a
17	SMC3	chr6:37321596-37321971	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:37321334-37322123	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr6:37321501-37322126	HL-60	blood:	n/a	n/a
20	CTCF	chr6:37321697-37321807	Spleen_OC	spleen:	n/a	chr6:37321764-37321777
21	POLR2A	chr6:37321326-37322079	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr6:37321471-37322039	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr6:37321324-37322228	A549	lung:	n/a	chr6:37321751-37321760
24	TAF1	chr6:37321387-37322049	PFSK-1	brain:	n/a	n/a
25	MYBL2	chr6:37321333-37322045	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:37321511-37322842	Hela-S3	cervix:	n/a	n/a
27	SIN3AK20	chr6:37321616-37322038	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:37321578-37322047	GM10847	blood:	n/a	n/a
29	TBL1XR1	chr6:37321453-37322045	K562	blood:	n/a	n/a
30	POLR2A	chr6:37321487-37322034	HepG2	liver:	n/a	n/a
31	MYC	chr6:37321501-37322023	NB4	blood:	n/a	n/a
32	PML	chr6:37321569-37322012	MCF-7	breast:	n/a	n/a
33	MAFK	chr6:37321717-37321949	K562	blood:	n/a	n/a
34	YY1	chr6:37321556-37322068	SK-N-SH_RA	brain:	n/a	n/a
35	CCNT2	chr6:37321593-37322035	K562	blood:	n/a	n/a
36	POLR2A	chr6:37321434-37322393	Raji	blood:	n/a	n/a
37	MAFF	chr6:37321648-37321871	HepG2	liver:	n/a	n/a
38	WRNIP1	chr6:37321369-37322022	GM12878	blood:	n/a	n/a
39	TAF1	chr6:37321631-37322033	GM12892	blood:	n/a	n/a
40	POLR2A	chr6:37321567-37322022	HUVEC	blood vessel:	n/a	n/a
41	ZEB1	chr6:37321616-37321876	GM12878	blood:	n/a	n/a
42	TBL1XR1	chr6:37321501-37321876	K562	blood:	n/a	n/a
43	TAF1	chr6:37321601-37322378	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr6:37321518-37322392	GM18951	blood:	n/a	n/a
45	POLR2A	chr6:37321388-37322053	PANC-1	pancreas:	n/a	n/a
46	YY1	chr6:37321593-37322071	H1-hESC	embryonic stem cell:	n/a	n/a
47	SRF	chr6:37321653-37321959	K562	blood:	n/a	chr6:37321681-37321691
48	NRF1	chr6:37321555-37321955	K562	blood:	n/a	chr6:37321750-37321759 chr6:37321750-37321761 chr6:37321749-37321760 chr6:37321750-37321764 chr6:37321747-37321761
49	POLR2A	chr6:37321473-37322065	HCT-116	colon:	n/a	n/a
50	TAF1	chr6:37321456-37322154	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:37321142..37324729-chr6:37426425..37428808,3	K562	blood:
2	chr6:37321701..37323718-chr6:37336446..37338578,2	MCF-7	breast:
3	chr6:37320614..37323224-chr6:37327841..37329776,2	MCF-7	breast:

Variant related genes	Relation type
RNF8	TF binding region
ENSG00000112130	Chromatin interaction
ENSG00000239953	Chromatin interaction
ENSG00000137200	Chromatin interaction

rs_ID	r²[population]
rs35409514	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37321000-37322600	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr6:37321000-37322800	Active TSS	Brain Substantia Nigra	brain
3	chr6:37321000-37323000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:37321200-37321800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr6:37321200-37321800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:37321200-37321800	Flanking Active TSS	Dnd41	blood
7	chr6:37321200-37321800	Flanking Active TSS	HMEC	breast
8	chr6:37321200-37321800	Flanking Active TSS	HUVEC	blood vessel
9	chr6:37321200-37321800	Flanking Active TSS	K562	blood
10	chr6:37321200-37321800	Flanking Active TSS	NH-A	brain
11	chr6:37321200-37322600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:37321200-37322600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr6:37321200-37322600	Active TSS	Brain Angular Gyrus	brain
14	chr6:37321200-37322600	Active TSS	Placenta	Placenta
15	chr6:37321200-37322600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:37321200-37322600	Active TSS	Right Ventricle	heart
17	chr6:37321200-37322800	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr6:37321200-37322800	Active TSS	Brain Cingulate Gyrus	brain
19	chr6:37321200-37322800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr6:37321200-37322800	Active TSS	Duodenum Mucosa	Duodenum
21	chr6:37321200-37322800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:37321200-37322800	Active TSS	Fetal Lung	lung
23	chr6:37321200-37322800	Active TSS	Psoas Muscle	Psoas
24	chr6:37321200-37322800	Active TSS	Rectal Smooth Muscle	rectum
25	chr6:37321200-37322800	Active TSS	Thymus	Thymus
26	chr6:37321200-37323000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:37321200-37323000	Active TSS	Aorta	Aorta
28	chr6:37321200-37323000	Active TSS	Placenta Amnion	Placenta Amnion
29	chr6:37321200-37323200	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr6:37321200-37323200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:37321200-37323200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:37321200-37323200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:37321200-37323200	Active TSS	NHLF	lung
34	chr6:37321200-37323400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr6:37321200-37323400	Active TSS	Brain Hippocampus Middle	brain
36	chr6:37321200-37323600	Active TSS	H1 Cell Line	embryonic stem cell
37	chr6:37321200-37323800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:37321400-37321800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:37321400-37321800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr6:37321400-37321800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr6:37321400-37321800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr6:37321400-37321800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:37321400-37321800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr6:37321400-37321800	Active TSS	Brain Germinal Matrix	brain
45	chr6:37321400-37321800	Flanking Active TSS	Colonic Mucosa	Colon
46	chr6:37321400-37321800	Enhancers	Stomach Mucosa	stomach
47	chr6:37321400-37322000	Active TSS	Fetal Stomach	stomach
48	chr6:37321400-37322200	Active TSS	Fetal Muscle Trunk	muscle
49	chr6:37321400-37322800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:37321400-37322800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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