Variant report

Variant	rs531947731
Chromosome Location	chr6:69344626-69344627
allele	A/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	CTCF	chr6:69344600-69344750	HCPEpiC	choroid plexus:	n/a	n/a
5	E2F6	chr6:69344618-69344837	K562	blood:	n/a	n/a
6	RCOR1	chr6:69344613-69344756	K562	blood:	n/a	n/a
7	RAD21	chr6:69344336-69345415	SK-N-SH_RA	brain:	n/a	chr6:69345020-69345034 chr6:69344689-69344699 chr6:69345328-69345338
8	POLR2A	chr6:69344491-69345421	K562	blood:	n/a	n/a
9	REST	chr6:69344483-69345164	K562	blood:	n/a	n/a
10	RAD21	chr6:69344597-69345380	SK-N-SH_RA	brain:	n/a	chr6:69345020-69345034 chr6:69344689-69344699 chr6:69345328-69345338
11	MAX	chr6:69344523-69345408	K562	blood:	n/a	chr6:69344692-69344702
12	BHLHE40	chr6:69344442-69346164	K562	blood:	n/a	chr6:69345453-69345469 chr6:69345036-69345052 chr6:69345447-69345463
13	POLR2A	chr6:69344483-69345944	SK-N-MC	brain:	n/a	n/a
14	HEY1	chr6:69344614-69345400	K562	blood:	n/a	chr6:69345006-69345021 chr6:69344995-69345010
15	TAF1	chr6:69344607-69345480	K562	blood:	n/a	n/a
16	TAF1	chr6:69344279-69345456	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr6:69343624-69345670	H1-neurons	neurons:	n/a	n/a
18	ZBTB7A	chr6:69344600-69345470	K562	blood:	n/a	n/a
19	REST	chr6:69343340-69345936	H1-neurons	neurons:	n/a	n/a
20	WRNIP1	chr6:69344408-69344649	GM12878	blood:	n/a	n/a
21	SIN3A	chr6:69344357-69346221	H1-hESC	embryonic stem cell:	n/a	chr6:69345031-69345042
22	RCOR1	chr6:69344402-69346421	K562	blood:	n/a	n/a
23	SMC3	chr6:69344610-69345301	K562	blood:	n/a	n/a
24	ARID3A	chr6:69344490-69344840	K562	blood:	n/a	n/a
25	CTCF	chr6:69344620-69344770	HMF	breast:	n/a	n/a
26	MAX	chr6:69344446-69345449	K562	blood:	n/a	chr6:69344692-69344702
27	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
28	UBTF	chr6:69344381-69345999	K562	blood:	n/a	n/a
29	CTCF	chr6:69344537-69345300	K562	blood:	n/a	n/a
30	CTCF	chr6:69344620-69344770	HA-sp	spinal cord:	n/a	n/a
31	MYC	chr6:69344581-69345417	K562	blood:	n/a	chr6:69344692-69344702
32	ZNF143	chr6:69344448-69345419	H1-hESC	embryonic stem cell:	n/a	chr6:69345027-69345037
33	POLR2A	chr6:69343604-69345662	H1-neurons	neurons:	n/a	n/a
34	CTCF	chr6:69344620-69344770	GM12871	blood:	n/a	n/a
35	POLR2A	chr6:69344609-69345568	K562	blood:	n/a	n/a
36	SIN3AK20	chr6:69344490-69344689	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr6:69344578-69344876	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAZ	chr6:69344485-69345519	IMR90	lung:	n/a	chr6:69344692-69344702
39	CTCF	chr6:69344620-69344770	GM12866	blood:	n/a	n/a
40	CUX1	chr6:69344261-69344671	K562	blood:	n/a	n/a
41	MAFF	chr6:69344465-69344645	K562	blood:	n/a	n/a
42	POLR2A	chr6:69344588-69344826	MCF-7	breast:	n/a	n/a
43	ZMIZ1	chr6:69344430-69345382	K562	blood:	n/a	n/a
44	REST	chr6:69344508-69345001	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr6:69344568-69345522	K562	blood:	n/a	n/a
46	SIN3AK20	chr6:69344398-69344842	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAZ	chr6:69344442-69346416	K562	blood:	n/a	chr6:69346406-69346416 chr6:69344692-69344702
48	POLR2A	chr6:69344601-69345542	K562	blood:	n/a	n/a
49	ZNF384	chr6:69343863-69344643	K562	blood:	n/a	chr6:69344238-69344246
50	JUND	chr6:69343982-69345484	K562	blood:	n/a	chr6:69345026-69345035

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:69344576-69344626	BE2_C	brain:	n/a
2	chr6:69344576-69344626	HEEpiC	esophagus:	n/a
3	chr6:69344576-69344626	K562	blood:	n/a
4	chr6:69344576-69344626	Jurkat	blood:	n/a
5	chr6:69344576-69344626	LNCaP	prostate:	n/a
6	chr6:69344576-69344626	PFSK-1	brain:	n/a
7	chr6:69344576-69344626	HCM	heart:	n/a
8	chr6:69344576-69344626	PrEC	prostate:	n/a
9	chr6:69344576-69344626	AG09319	gingival:	n/a
10	chr6:69344576-69344626	GM19239	blood:	n/a
11	chr6:69344576-69344626	SK-N-MC	brain:	n/a
12	chr6:69344576-69344626	H1-hESC	embryonic stem cell:	embryo
13	chr6:69344576-69344626	AG04450	lung:	fetal
14	chr6:69344576-69344626	NT2-D1	testis:	n/a
15	chr6:69344576-69344626	GM12891	blood:	n/a
16	chr6:69344576-69344626	RPTEC	kidney:	n/a
17	chr6:69344576-69344626	HIPEpiC	eye:	n/a
18	chr6:69344576-69344626	GM12892	blood:	n/a
19	chr6:69344576-69344626	AoSMC	blood vessel:	n/a
20	chr6:69344576-69344626	Hepatocyte	liver:	n/a
21	chr6:69344576-69344626	GM12878	blood:	n/a
22	chr6:69344576-69344626	MCF-7	breast:	n/a
23	chr6:69344576-69344626	HEK293	kidney:	embryo
24	chr6:69344576-69344626	PANC-1	pancreas:	n/a
25	chr6:69344576-69344626	AG09309	skin:	n/a
26	chr6:69344576-69344626	HL-60	blood:	n/a
27	chr6:69344576-69344626	CMK	blood:	n/a
28	chr6:69344576-69344626	HRCEpiC	kidney:	n/a
29	chr6:69344576-69344626	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:69344576-69344626	AG04449	skin:	fetal
31	chr6:69344576-69344626	HUVEC	blood vessel:	n/a
32	chr6:69344576-69344626	A549	lung:	n/a
33	chr6:69344576-69344626	HNPCEpiC	eye:	n/a
34	chr6:69344576-69344626	ProgFib	skin:	n/a
35	chr6:69344576-69344626	IMR90	lung:	fetal
36	chr6:69344576-69344626	NB4	blood:	n/a
37	chr6:69344576-69344626	NH-A	brain:	n/a
38	chr6:69344576-69344626	AG10803	skin:	n/a
39	chr6:69344576-69344626	BJ	skin:	n/a
40	chr6:69344576-69344626	SAEC	small airway:	n/a
41	chr6:69344576-69344626	ECC-1	luminal epithelium:	n/a
42	chr6:69344576-69344626	HCPEpiC	choroid plexus:	n/a
43	chr6:69344576-69344626	HepG2	liver:	n/a
44	chr6:69344576-69344626	SKMC	muscle:	n/a
45	chr6:69344576-69344626	MCF10A-Er-Src	breast:	n/a
46	chr6:69344576-69344626	NHBE	bronchial:	n/a
47	chr6:69344576-69344626	ovcar-3	ovarian:	n/a
48	chr6:69344576-69344626	SK-N-SH_RA	brain:	n/a
49	chr6:69344576-69344626	SK-N-SH	brain:	n/a
50	chr6:69344576-69344626	Caco-2	colon:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL713998.1-2	chr6:69342555-69344919	ENSG00000230910.2
2	lnc-AL713998.1-2	chr6:69343940-69344888	NONHSAT113409
3	lnc-AL713998.1-2	chr6:69343940-69344888	NONHSAT113414
4	lnc-AL713998.1-2	chr6:69344077-69344985	NONHSAT113407
5	lnc-AL713998.1-2	chr6:69344077-69345052	NONHSAT113413
6	lnc-AL713998.1-2	chr6:69344357-69344967	NONHSAT113416

Variant related genes	Relation type
ENSG00000230910	TF binding region
BAI3	TF binding region
ENSG00000230910	CpG island
BAI3	CpG island

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:121 , 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	chr6:69343600-69344800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:69343600-69345800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr6:69343600-69345800	Active TSS	Rectal Smooth Muscle	rectum
15	chr6:69343600-69346200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
16	chr6:69343600-69346400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:69343600-69346600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:69343600-69346800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:69343600-69347200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr6:69343600-69347400	Active TSS	Brain Substantia Nigra	brain
21	chr6:69343600-69348200	Active TSS	Right Atrium	heart
22	chr6:69343800-69344800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr6:69343800-69345000	Active TSS	Colonic Mucosa	Colon
24	chr6:69343800-69345200	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr6:69343800-69345600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
26	chr6:69343800-69345800	Flanking Active TSS	Liver	Liver
27	chr6:69343800-69346200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
28	chr6:69343800-69346400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:69343800-69346600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:69343800-69346600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:69343800-69346600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr6:69343800-69346600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:69343800-69346600	Active TSS	Left Ventricle	heart
34	chr6:69343800-69346800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr6:69343800-69346800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:69343800-69346800	Active TSS	Ovary	ovary
37	chr6:69343800-69347400	Active TSS	Colon Smooth Muscle	Colon
38	chr6:69344000-69344800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr6:69344000-69345000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:69344000-69345400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:69344000-69345800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
42	chr6:69344000-69346000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:69344000-69346200	Active TSS	Psoas Muscle	Psoas
44	chr6:69344000-69346200	Bivalent/Poised TSS	NHLF	lung
45	chr6:69344000-69346600	Active TSS	Aorta	Aorta
46	chr6:69344000-69346800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:69344000-69347000	Active TSS	Right Ventricle	heart
48	chr6:69344200-69344800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr6:69344200-69344800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
50	chr6:69344200-69345200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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