Variant report

Variant	rs539751428
Chromosome Location	chr6:69345438-69345439
allele	C/G
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	HA-E2F1	chr6:69344470-69345447	MCF-7	breast:	n/a	chr6:69345030-69345039
2	RAD21	chr6:69342384-69347457	SK-N-SH	brain:	n/a	chr6:69345907-69345917 chr6:69345020-69345034 chr6:69344689-69344699 chr6:69343839-69343849 chr6:69345328-69345338
3	RFX5	chr6:69342558-69347581	SK-N-SH	brain:	n/a	chr6:69344290-69344305 chr6:69346927-69346936 chr6:69344290-69344305
4	YY1	chr6:69344883-69345505	K562	blood:	n/a	chr6:69345449-69345463 chr6:69345454-69345463 chr6:69345446-69345460 chr6:69345027-69345041 chr6:69345451-69345462 chr6:69345451-69345460 chr6:69345030-69345039
5	BHLHE40	chr6:69344442-69346164	K562	blood:	n/a	chr6:69345453-69345469 chr6:69345036-69345052 chr6:69345447-69345463
6	TBP	chr6:69344642-69346203	K562	blood:	n/a	n/a
7	POLR2A	chr6:69344483-69345944	SK-N-MC	brain:	n/a	n/a
8	REST	chr6:69344948-69345902	H1-neurons	neurons:	n/a	n/a
9	TAF1	chr6:69344607-69345480	K562	blood:	n/a	n/a
10	TAF1	chr6:69344279-69345456	H1-neurons	neurons:	n/a	n/a
11	JUN	chr6:69344647-69345468	K562	blood:	n/a	chr6:69345026-69345035
12	POLR2A	chr6:69343624-69345670	H1-neurons	neurons:	n/a	n/a
13	ZBTB7A	chr6:69344600-69345470	K562	blood:	n/a	n/a
14	REST	chr6:69343340-69345936	H1-neurons	neurons:	n/a	n/a
15	SIN3A	chr6:69344357-69346221	H1-hESC	embryonic stem cell:	n/a	chr6:69345031-69345042
16	RCOR1	chr6:69344402-69346421	K562	blood:	n/a	n/a
17	MAX	chr6:69344446-69345449	K562	blood:	n/a	chr6:69344692-69344702
18	NRF1	chr6:69344071-69345747	SK-N-SH	brain:	n/a	chr6:69345080-69345091 chr6:69345129-69345140 chr6:69345027-69345036 chr6:69345146-69345157 chr6:69345354-69345361
19	UBTF	chr6:69344381-69345999	K562	blood:	n/a	n/a
20	ZNF263	chr6:69344980-69345444	HEK293-T-REx	kidney:	n/a	chr6:69345336-69345345 chr6:69345339-69345348 chr6:69345333-69345342
21	PML	chr6:69344948-69345530	K562	blood:	n/a	n/a
22	POLR2A	chr6:69343604-69345662	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr6:69344609-69345568	K562	blood:	n/a	n/a
24	POLR2A	chr6:69344863-69345535	K562	blood:	n/a	n/a
25	POLR2A	chr6:69345110-69345455	SK-N-MC	brain:	n/a	n/a
26	MAZ	chr6:69344485-69345519	IMR90	lung:	n/a	chr6:69344692-69344702
27	POLR2A	chr6:69344568-69345522	K562	blood:	n/a	n/a
28	MAZ	chr6:69344442-69346416	K562	blood:	n/a	chr6:69346406-69346416 chr6:69344692-69344702
29	POLR2A	chr6:69344601-69345542	K562	blood:	n/a	n/a
30	GTF2B	chr6:69345011-69345454	K562	blood:	n/a	n/a
31	TAF1	chr6:69344911-69345510	H1-neurons	neurons:	n/a	n/a
32	JUND	chr6:69343982-69345484	K562	blood:	n/a	chr6:69345026-69345035
33	POLR2A	chr6:69344833-69345446	K562	blood:	n/a	n/a
34	ZBTB7A	chr6:69345135-69345799	K562	blood:	n/a	chr6:69345551-69345565
35	TBL1XR1	chr6:69344554-69345476	K562	blood:	n/a	n/a
36	MYC	chr6:69344448-69346220	K562	blood:	n/a	chr6:69344692-69344702
37	RCOR1	chr6:69345012-69345477	K562	blood:	n/a	n/a
38	TEAD4	chr6:69344896-69345466	K562	blood:	n/a	n/a
39	CTBP2	chr6:69344295-69346023	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:69345425-69345475	HCM	heart:	n/a
2	chr6:69345425-69345475	RPTEC	kidney:	n/a
3	chr6:69345425-69345475	PrEC	prostate:	n/a
4	chr6:69345425-69345475	HEK293	kidney:	embryo
5	chr6:69345425-69345475	AG09319	gingival:	n/a
6	chr6:69345425-69345475	GM12891	blood:	n/a
7	chr6:69345425-69345475	ProgFib	skin:	n/a
8	chr6:69345425-69345475	NHDF-neo	bronchial:	n/a
9	chr6:69345425-69345475	Caco-2	colon:	n/a
10	chr6:69345425-69345475	AG04449	skin:	fetal
11	chr6:69345425-69345475	HNPCEpiC	eye:	n/a
12	chr6:69345425-69345475	HRE	kidney:	n/a
13	chr6:69345425-69345475	HRCEpiC	kidney:	n/a
14	chr6:69345425-69345475	ECC-1	luminal epithelium:	n/a
15	chr6:69345425-69345475	GM12878	blood:	n/a
16	chr6:69345425-69345475	NH-A	brain:	n/a
17	chr6:69345425-69345475	MCF10A-Er-Src	breast:	n/a
18	chr6:69345425-69345475	GM12892	blood:	n/a
19	chr6:69345425-69345475	NHBE	bronchial:	n/a
20	chr6:69345425-69345475	H1-hESC	embryonic stem cell:	embryo
21	chr6:69345425-69345475	Hepatocyte	liver:	n/a
22	chr6:69345425-69345475	AoSMC	blood vessel:	n/a
23	chr6:69345425-69345475	K562	blood:	n/a
24	chr6:69345425-69345475	HCPEpiC	choroid plexus:	n/a
25	chr6:69345425-69345475	HIPEpiC	eye:	n/a
26	chr6:69345425-69345475	HCT-116	colon:	n/a
27	chr6:69345425-69345475	SAEC	small airway:	n/a
28	chr6:69345425-69345475	AG10803	skin:	n/a
29	chr6:69345425-69345475	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:69345425-69345475	NB4	blood:	n/a
31	chr6:69345425-69345475	Jurkat	blood:	n/a
32	chr6:69345425-69345475	HL-60	blood:	n/a
33	chr6:69345425-69345475	Hela-S3	cervix:	n/a
34	chr6:69345425-69345475	SK-N-SH_RA	brain:	n/a
35	chr6:69345425-69345475	HAEpiC	amniotic membrane:	n/a
36	chr6:69345425-69345475	AG09309	skin:	n/a
37	chr6:69345425-69345475	T-47D	breast:	n/a
38	chr6:69345425-69345475	SKMC	muscle:	n/a
39	chr6:69345425-69345475	A549	lung:	n/a
40	chr6:69345425-69345475	AG04450	lung:	fetal
41	chr6:69345425-69345475	MCF-7	breast:	n/a
42	chr6:69345425-69345475	LNCaP	prostate:	n/a
43	chr6:69345425-69345475	BE2_C	brain:	n/a
44	chr6:69345425-69345475	CMK	blood:	n/a
45	chr6:69345425-69345475	ovcar-3	ovarian:	n/a
46	chr6:69345425-69345475	GM19239	blood:	n/a
47	chr6:69345425-69345475	BJ	skin:	n/a
48	chr6:69345425-69345475	GM06990	blood:	n/a
49	chr6:69345425-69345475	HUVEC	blood vessel:	n/a
50	chr6:69345425-69345475	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:6675219..6676012-chr6:69345153..69345653,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230910	TF binding region
ENSG00000230910	CpG island
ENSG00000251580	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830680	chr6:69192214-69351103	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3340533	chr6:69343856-69346404	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	esv3321603	chr6:69344081-69346129	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69342600-69349600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:69342600-69351000	Active TSS	Brain Angular Gyrus	brain
3	chr6:69342800-69348000	Active TSS	Fetal Brain Male	brain
4	chr6:69343000-69348000	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr6:69343200-69348600	Active TSS	Brain Cingulate Gyrus	brain
6	chr6:69343200-69348800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:69343200-69349200	Active TSS	Brain Germinal Matrix	brain
8	chr6:69343200-69351200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:69343200-69352000	Active TSS	Brain Anterior Caudate	brain
10	chr6:69343400-69348400	Active TSS	Fetal Stomach	stomach
11	chr6:69343400-69349600	Active TSS	Fetal Brain Female	brain
12	chr6:69343600-69345800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
13	chr6:69343600-69345800	Active TSS	Rectal Smooth Muscle	rectum
14	chr6:69343600-69346200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr6:69343600-69346400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:69343600-69346600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:69343600-69346800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:69343600-69347200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr6:69343600-69347400	Active TSS	Brain Substantia Nigra	brain
20	chr6:69343600-69348200	Active TSS	Right Atrium	heart
21	chr6:69343800-69345600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
22	chr6:69343800-69345800	Flanking Active TSS	Liver	Liver
23	chr6:69343800-69346200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr6:69343800-69346400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr6:69343800-69346600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:69343800-69346600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:69343800-69346600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr6:69343800-69346600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:69343800-69346600	Active TSS	Left Ventricle	heart
30	chr6:69343800-69346800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr6:69343800-69346800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:69343800-69346800	Active TSS	Ovary	ovary
33	chr6:69343800-69347400	Active TSS	Colon Smooth Muscle	Colon
34	chr6:69344000-69345800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
35	chr6:69344000-69346000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:69344000-69346200	Active TSS	Psoas Muscle	Psoas
37	chr6:69344000-69346200	Bivalent/Poised TSS	NHLF	lung
38	chr6:69344000-69346600	Active TSS	Aorta	Aorta
39	chr6:69344000-69346800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:69344000-69347000	Active TSS	Right Ventricle	heart
41	chr6:69344200-69345600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:69344200-69345600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:69344200-69345800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr6:69344200-69345800	Active TSS	Fetal Kidney	kidney
45	chr6:69344200-69346200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:69344200-69346200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:69344200-69346200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:69344200-69346200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:69344200-69346200	Active TSS	Pancreas	Pancrea
50	chr6:69344200-69346200	Bivalent/Poised TSS	GM12878-XiMat	blood

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