Variant report

Variant	rs559759378
Chromosome Location	chr6:33386586-33386587
allele	-/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	POLR2A	chr6:33384094-33387006	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr6:33385468-33386593	ECC-1	luminal epithelium:	n/a	n/a
3	USF1	chr6:33384939-33386624	K562	blood:	n/a	chr6:33386119-33386128 chr6:33386118-33386131 chr6:33386120-33386129 chr6:33386120-33386129
4	USF1	chr6:33385509-33386589	ECC-1	luminal epithelium:	n/a	chr6:33386119-33386128 chr6:33386118-33386131 chr6:33386120-33386129 chr6:33386120-33386129
5	RUNX3	chr6:33385027-33387193	GM12878	blood:	n/a	n/a
6	JUN	chr6:33384157-33388027	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
7	POLR2A	chr6:33385639-33386891	GM12892	blood:	n/a	n/a
8	MAX	chr6:33385239-33386682	HepG2	liver:	n/a	chr6:33386120-33386129 chr6:33385874-33385884 chr6:33385899-33385909 chr6:33386201-33386210 chr6:33386200-33386211
9	POLR2A	chr6:33385522-33386979	K562	blood:	n/a	n/a
10	POLR2A	chr6:33385502-33386594	HUVEC	blood vessel:	n/a	n/a
11	USF1	chr6:33385408-33386688	HCT-116	colon:	n/a	chr6:33386119-33386128 chr6:33386118-33386131 chr6:33386120-33386129 chr6:33386120-33386129
12	POLR2A	chr6:33385451-33387100	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr6:33385318-33386843	GM12878	blood:	n/a	n/a
14	HEY1	chr6:33385690-33387124	K562	blood:	n/a	chr6:33386980-33386989 chr6:33386982-33386991
15	MTA3	chr6:33386082-33386707	GM12878	blood:	n/a	n/a
16	TAF1	chr6:33384999-33386859	H1-neurons	neurons:	n/a	n/a
17	SIN3A	chr6:33385528-33386787	GM12878	blood:	n/a	chr6:33386465-33386478 chr6:33386200-33386209
18	RCOR1	chr6:33385480-33386795	GM12878	blood:	n/a	n/a
19	MAX	chr6:33384966-33386765	HepG2	liver:	n/a	chr6:33386120-33386129 chr6:33385874-33385884 chr6:33385899-33385909 chr6:33386201-33386210 chr6:33386200-33386211
20	NR2F2	chr6:33384437-33387030	K562	blood:	n/a	n/a
21	POLR2A	chr6:33386085-33386818	GM12878	blood:	n/a	n/a
22	CREB1	chr6:33385535-33386613	K562	blood:	n/a	n/a
23	POLR2A	chr6:33385435-33387053	K562	blood:	n/a	n/a
24	POLR2A	chr6:33384269-33387286	K562	blood:	n/a	n/a
25	STAT5A	chr6:33386028-33386592	GM12878	blood:	n/a	chr6:33386222-33386231 chr6:33386221-33386230
26	TBP	chr6:33385446-33386787	K562	blood:	n/a	n/a
27	MAX	chr6:33384832-33386610	A549	lung:	n/a	chr6:33386120-33386129 chr6:33385874-33385884 chr6:33385899-33385909 chr6:33386201-33386210 chr6:33386200-33386211
28	HCFC1	chr6:33384636-33386789	Hela-S3	cervix:	n/a	n/a
29	MAX	chr6:33385483-33386698	H1-hESC	embryonic stem cell:	n/a	chr6:33386120-33386129 chr6:33385874-33385884 chr6:33385899-33385909 chr6:33386201-33386210 chr6:33386200-33386211
30	ELF1	chr6:33385371-33386668	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:33385525-33386967	MCF-7	breast:	n/a	n/a
32	REST	chr6:33384793-33386939	H1-neurons	neurons:	n/a	n/a
33	POU2F2	chr6:33386566-33387059	GM12891	blood:	n/a	n/a
34	POLR2A	chr6:33385432-33387112	K562	blood:	n/a	n/a
35	RFX5	chr6:33385166-33386834	SK-N-SH	brain:	n/a	n/a
36	NFYA	chr6:33385689-33386775	Hela-S3	cervix:	n/a	chr6:33386173-33386186 chr6:33386172-33386184 chr6:33386173-33386188 chr6:33386006-33386018 chr6:33386173-33386188 chr6:33386175-33386185 chr6:33386173-33386187
37	POLR2A	chr6:33384945-33386621	HUVEC	blood vessel:	n/a	n/a
38	RELA	chr6:33385419-33387090	GM18505	blood:	n/a	n/a
39	JUND	chr6:33385498-33387369	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
40	POLR2A	chr6:33384405-33386607	HepG2	liver:	n/a	n/a
41	POLR2A	chr6:33385517-33386803	MCF-7	breast:	n/a	n/a
42	RELA	chr6:33385510-33386661	GM19193	blood:	n/a	n/a
43	MAX	chr6:33385301-33386745	MCF-7	breast:	n/a	chr6:33386120-33386129 chr6:33385874-33385884 chr6:33385899-33385909 chr6:33386201-33386210 chr6:33386200-33386211
44	POLR2A	chr6:33385441-33386984	K562	blood:	n/a	n/a
45	POLR2A	chr6:33386572-33386854	HepG2	liver:	n/a	n/a
46	POLR2A	chr6:33384494-33386932	K562	blood:	n/a	n/a
47	POLR2A	chr6:33385372-33387049	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:33384844-33386695	H1-neurons	neurons:	n/a	n/a
49	NFYB	chr6:33385716-33386961	K562	blood:	n/a	chr6:33386173-33386186 chr6:33386172-33386184 chr6:33386173-33386188 chr6:33386006-33386018 chr6:33386843-33386857 chr6:33386173-33386188 chr6:33386843-33386858 chr6:33386175-33386185 chr6:33386173-33386187 chr6:33386843-33386858
50	KAP1	chr6:33385486-33386648	U2OS	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33386556-33386606	H1-hESC	embryonic stem cell:	embryo
2	chr6:33386556-33386606	BE2_C	brain:	n/a
3	chr6:33386556-33386606	Jurkat	blood:	n/a
4	chr6:33386556-33386606	HCF	heart:	n/a
5	chr6:33386556-33386606	NH-A	brain:	n/a
6	chr6:33386556-33386606	HRCEpiC	kidney:	n/a
7	chr6:33386556-33386606	GM06990	blood:	n/a
8	chr6:33386556-33386606	ProgFib	skin:	n/a
9	chr6:33386556-33386606	Hepatocyte	liver:	n/a
10	chr6:33386556-33386606	HRPEpiC	eye:	n/a
11	chr6:33386556-33386606	SAEC	small airway:	n/a
12	chr6:33386556-33386606	NB4	blood:	n/a
13	chr6:33386556-33386606	HUVEC	blood vessel:	n/a
14	chr6:33386556-33386606	HCT-116	colon:	n/a
15	chr6:33386556-33386606	HCPEpiC	choroid plexus:	n/a
16	chr6:33386556-33386606	GM19239	blood:	n/a
17	chr6:33386556-33386606	AG10803	skin:	n/a
18	chr6:33386556-33386606	HEK293	kidney:	embryo
19	chr6:33386556-33386606	AG04449	skin:	fetal
20	chr6:33386556-33386606	HPAEpiC	pulmonary alveolar:	n/a
21	chr6:33386556-33386606	AG09309	skin:	n/a
22	chr6:33386556-33386606	GM12878	blood:	n/a
23	chr6:33386556-33386606	HIPEpiC	eye:	n/a
24	chr6:33386556-33386606	SKMC	muscle:	n/a
25	chr6:33386556-33386606	HL-60	blood:	n/a
26	chr6:33386556-33386606	HMEC	breast:	n/a
27	chr6:33386556-33386606	ovcar-3	ovarian:	n/a
28	chr6:33386556-33386606	U87	brain:	n/a
29	chr6:33386556-33386606	SK-N-SH	brain:	n/a
30	chr6:33386556-33386606	GM12892	blood:	n/a
31	chr6:33386556-33386606	K562	blood:	n/a
32	chr6:33386556-33386606	NHDF-neo	bronchial:	n/a
33	chr6:33386556-33386606	HNPCEpiC	eye:	n/a
34	chr6:33386556-33386606	MCF10A-Er-Src	breast:	n/a
35	chr6:33386556-33386606	A549	lung:	n/a
36	chr6:33386556-33386606	BJ	skin:	n/a
37	chr6:33386556-33386606	HAEpiC	amniotic membrane:	n/a
38	chr6:33386556-33386606	RPTEC	kidney:	n/a
39	chr6:33386556-33386606	AG09319	gingival:	n/a
40	chr6:33386556-33386606	PrEC	prostate:	n/a
41	chr6:33386556-33386606	PANC-1	pancreas:	n/a
42	chr6:33386556-33386606	SK-N-SH_RA	brain:	n/a
43	chr6:33386556-33386606	NT2-D1	testis:	n/a
44	chr6:33386556-33386606	IMR90	lung:	fetal
45	chr6:33386556-33386606	GM12891	blood:	n/a
46	chr6:33386556-33386606	AoSMC	blood vessel:	n/a
47	chr6:33386556-33386606	Hela-S3	cervix:	n/a
48	chr6:33386556-33386606	LNCaP	prostate:	n/a
49	chr6:33386556-33386606	MCF-7	breast:	n/a
50	chr6:33386556-33386606	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33242365..33247657-chr6:33386109..33388284,6	K562	blood:
2	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
3	chr6:32938527..32941573-chr6:33384163..33387216,4	K562	blood:
4	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
5	chr6:33264410..33268847-chr6:33383674..33387403,5	MCF-7	breast:
6	chr6:33168527..33171468-chr6:33384494..33387586,3	K562	blood:
7	chr6:33169269..33171468-chr6:33384494..33387192,2	K562	blood:
8	chr6:33254516..33257651-chr6:33384634..33387572,3	K562	blood:
9	chr6:33365854..33369434-chr6:33385468..33388336,3	K562	blood:
10	chr6:33264378..33268881-chr6:33383627..33388443,14	K562	blood:
11	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
12	chr6:33356382..33361019-chr6:33384058..33388661,8	K562	blood:
13	chr6:33384548..33387250-chr6:33422114..33424496,2	K562	blood:
14	chr6:33285422..33287849-chr6:33385883..33388858,2	MCF-7	breast:
15	chr6:33264858..33266557-chr6:33385922..33387524,2	K562	blood:
16	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
17	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
18	chr6:33242542..33249529-chr6:33381747..33388277,18	K562	blood:
19	chr6:33279097..33283546-chr6:33386045..33390564,5	MCF-7	breast:
20	chr6:33358575..33362850-chr6:33383674..33386989,4	MCF-7	breast:
21	chr6:33371627..33375942-chr6:33381284..33387543,6	K562	blood:
22	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:

Variant related genes	Relation type
CUTA	TF binding region
SYNGAP1	TF binding region
SYNGAP1	CpG island
CUTA	CpG island
ENSG00000204231	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000204194	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv932196	chr6:33383131-33400706	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
6	esv3491403	chr6:33386574-33390272	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	esv3491404	chr6:33386574-33390272	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	19 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	chr6:33384000-33386600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:33384400-33386600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:33384600-33386800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr6:33384800-33386600	Active TSS	Ovary	ovary
5	chr6:33384800-33386600	Active TSS	Psoas Muscle	Psoas
6	chr6:33384800-33386800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr6:33385000-33386600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:33385000-33386600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:33385000-33387000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:33385400-33386600	Active TSS	Brain Angular Gyrus	brain
11	chr6:33386000-33387800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:33386000-33392600	Weak transcription	Gastric	stomach
13	chr6:33386200-33386600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:33386200-33386600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:33386200-33386600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr6:33386200-33386600	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr6:33386200-33386600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr6:33386200-33386600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:33386200-33386600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:33386200-33386600	Flanking Active TSS	Liver	Liver
21	chr6:33386200-33386600	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr6:33386200-33386600	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr6:33386200-33386600	Flanking Active TSS	Fetal Lung	lung
24	chr6:33386200-33386600	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr6:33386200-33386600	Flanking Active TSS	Placenta	Placenta
26	chr6:33386200-33386600	Flanking Active TSS	Fetal Thymus	thymus
27	chr6:33386200-33386600	Flanking Active TSS	Pancreas	Pancrea
28	chr6:33386200-33386600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
29	chr6:33386200-33386600	Flanking Active TSS	Stomach Mucosa	stomach
30	chr6:33386200-33386600	Flanking Active TSS	HMEC	breast
31	chr6:33386200-33386600	Flanking Active TSS	HSMM	muscle
32	chr6:33386200-33386600	Flanking Active TSS	HUVEC	blood vessel
33	chr6:33386200-33386600	Flanking Active TSS	NH-A	brain
34	chr6:33386200-33386800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr6:33386200-33386800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:33386200-33386800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:33386200-33386800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:33386200-33386800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr6:33386200-33386800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr6:33386200-33386800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr6:33386200-33386800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr6:33386200-33386800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:33386200-33386800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr6:33386200-33386800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:33386200-33386800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr6:33386200-33386800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:33386200-33386800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:33386200-33386800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:33386200-33386800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr6:33386200-33386800	Flanking Active TSS	Colonic Mucosa	Colon

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