Variant report

Variant	rs538462251
Chromosome Location	chr6:33387042-33387043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr6:33385027-33387193	GM12878	blood:	n/a	n/a
2	JUN	chr6:33384157-33388027	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
3	POLR2A	chr6:33385451-33387100	H1-hESC	embryonic stem cell:	n/a	n/a
4	HEY1	chr6:33385690-33387124	K562	blood:	n/a	chr6:33386980-33386989 chr6:33386982-33386991
5	ELF1	chr6:33386644-33387140	K562	blood:	n/a	n/a
6	EP300	chr6:33386812-33387065	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:33385435-33387053	K562	blood:	n/a	n/a
8	POLR2A	chr6:33384269-33387286	K562	blood:	n/a	n/a
9	ATF1	chr6:33386774-33387117	K562	blood:	n/a	n/a
10	POU2F2	chr6:33386566-33387059	GM12891	blood:	n/a	n/a
11	POLR2A	chr6:33385432-33387112	K562	blood:	n/a	n/a
12	RELA	chr6:33385419-33387090	GM18505	blood:	n/a	n/a
13	JUND	chr6:33385498-33387369	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
14	POLR2A	chr6:33385372-33387049	GM12878	blood:	n/a	n/a
15	MAZ	chr6:33385542-33387149	K562	blood:	n/a	chr6:33386120-33386129 chr6:33386201-33386210 chr6:33386200-33386211
16	JUN	chr6:33385663-33387191	K562	blood:	n/a	chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
17	RELA	chr6:33385609-33387099	GM19099	blood:	n/a	n/a
18	ATF2	chr6:33386706-33387155	GM12878	blood:	n/a	chr6:33386980-33386991
19	JUND	chr6:33385818-33387195	H1-hESC	embryonic stem cell:	n/a	chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
20	POLR2A	chr6:33380085-33387208	IMR90	lung:	n/a	n/a
21	POLR2A	chr6:33384195-33387279	SK-N-MC	brain:	n/a	n/a
22	CBX3	chr6:33384568-33387065	K562	blood:	n/a	n/a
23	TAF1	chr6:33385254-33387119	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr6:33386673-33387217	GM12878	blood:	n/a	chr6:33386979-33386992
25	POLR2A	chr6:33384615-33387295	PBDE	blood:	n/a	n/a
26	POLR2A	chr6:33384152-33387191	GM12878	blood:	n/a	n/a
27	ATF2	chr6:33386639-33387227	GM12878	blood:	n/a	chr6:33386980-33386991
28	NFIC	chr6:33385386-33387234	GM12878	blood:	n/a	n/a
29	RCOR1	chr6:33385372-33387109	K562	blood:	n/a	n/a
30	RUNX3	chr6:33385361-33387367	GM12878	blood:	n/a	n/a
31	SP1	chr6:33385414-33387073	H1-hESC	embryonic stem cell:	n/a	chr6:33386174-33386195 chr6:33386844-33386865
32	ZMIZ1	chr6:33384522-33387174	K562	blood:	n/a	n/a
33	MTA3	chr6:33386741-33387190	GM12878	blood:	n/a	n/a
34	RELA	chr6:33385299-33387186	GM12891	blood:	n/a	n/a
35	POLR2A	chr6:33385337-33387137	H1-hESC	embryonic stem cell:	n/a	n/a
36	TEAD4	chr6:33384207-33387321	K562	blood:	n/a	n/a
37	JUND	chr6:33386575-33387339	GM12878	blood:	n/a	chr6:33387272-33387283 chr6:33386981-33386990 chr6:33386847-33386856
38	MTA3	chr6:33383820-33387438	GM12878	blood:	n/a	n/a
39	CEBPB	chr6:33386673-33387251	GM12878	blood:	n/a	n/a
40	BCL11A	chr6:33386772-33387143	GM12878	blood:	n/a	chr6:33386968-33386977
41	POLR2A	chr6:33384242-33387116	HepG2	liver:	n/a	n/a
42	ZNF143	chr6:33386902-33387073	GM12878	blood:	n/a	n/a
43	ZBTB7A	chr6:33386625-33387074	K562	blood:	n/a	n/a
44	POLR2A	chr6:33384134-33387098	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr6:33384220-33387082	K562	blood:	n/a	n/a
46	CUX1	chr6:33385819-33387101	K562	blood:	n/a	n/a
47	ELK1	chr6:33386863-33387058	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:33386861-33387119	ECC-1	luminal epithelium:	n/a	n/a
49	STAT5A	chr6:33386045-33387128	GM12878	blood:	n/a	chr6:33387014-33387026 chr6:33386222-33386231 chr6:33386221-33386230
50	FOXM1	chr6:33386698-33387109	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33387003-33387053	H1-hESC	embryonic stem cell:	embryo
2	chr6:33387003-33387053	AG09309	skin:	n/a
3	chr6:33387003-33387053	GM12892	blood:	n/a
4	chr6:33387003-33387053	BE2_C	brain:	n/a
5	chr6:33387003-33387053	GM19239	blood:	n/a
6	chr6:33387003-33387053	LNCaP	prostate:	n/a
7	chr6:33387003-33387053	BJ	skin:	n/a
8	chr6:33387003-33387053	ECC-1	luminal epithelium:	n/a
9	chr6:33387003-33387053	AoSMC	blood vessel:	n/a
10	chr6:33387003-33387053	SAEC	small airway:	n/a
11	chr6:33387003-33387053	GM12878	blood:	n/a
12	chr6:33387003-33387053	NH-A	brain:	n/a
13	chr6:33387003-33387053	HRCEpiC	kidney:	n/a
14	chr6:33387003-33387053	A549	lung:	n/a
15	chr6:33387003-33387053	MCF10A-Er-Src	breast:	n/a
16	chr6:33387003-33387053	HCM	heart:	n/a
17	chr6:33387003-33387053	HUVEC	blood vessel:	n/a
18	chr6:33387003-33387053	AG04449	skin:	fetal
19	chr6:33387003-33387053	Jurkat	blood:	n/a
20	chr6:33387003-33387053	Hela-S3	cervix:	n/a
21	chr6:33387003-33387053	NB4	blood:	n/a
22	chr6:33387003-33387053	ovcar-3	ovarian:	n/a
23	chr6:33387003-33387053	CMK	blood:	n/a
24	chr6:33387003-33387053	SK-N-SH_RA	brain:	n/a
25	chr6:33387003-33387053	Caco-2	colon:	n/a
26	chr6:33387003-33387053	SK-N-MC	brain:	n/a
27	chr6:33387003-33387053	HL-60	blood:	n/a
28	chr6:33387003-33387053	Hepatocyte	liver:	n/a
29	chr6:33387003-33387053	HepG2	liver:	n/a
30	chr6:33387003-33387053	PrEC	prostate:	n/a
31	chr6:33387003-33387053	K562	blood:	n/a
32	chr6:33387003-33387053	U87	brain:	n/a
33	chr6:33387003-33387053	HRPEpiC	eye:	n/a
34	chr6:33387003-33387053	NHDF-neo	bronchial:	n/a
35	chr6:33387003-33387053	AG04450	lung:	fetal
36	chr6:33387003-33387053	HEEpiC	esophagus:	n/a
37	chr6:33387003-33387053	AG09319	gingival:	n/a
38	chr6:33387003-33387053	IMR90	lung:	fetal
39	chr6:33387003-33387053	PANC-1	pancreas:	n/a
40	chr6:33387003-33387053	SK-N-SH	brain:	n/a
41	chr6:33387003-33387053	RPTEC	kidney:	n/a
42	chr6:33387003-33387053	HMEC	breast:	n/a
43	chr6:33387003-33387053	ProgFib	skin:	n/a
44	chr6:33387003-33387053	SKMC	muscle:	n/a
45	chr6:33387003-33387053	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:33387003-33387053	HAEpiC	amniotic membrane:	n/a
47	chr6:33387003-33387053	GM06990	blood:	n/a
48	chr6:33387003-33387053	PFSK-1	brain:	n/a
49	chr6:33387003-33387053	HCF	heart:	n/a
50	chr6:33387003-33387053	HIPEpiC	eye:	n/a

(count:22 , 50 per page) page: 1

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	chr6:33357638..33360083-chr6:33386720..33388943,3	MCF-7	breast:
12	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
13	chr6:33356382..33361019-chr6:33384058..33388661,8	K562	blood:
14	chr6:33384548..33387250-chr6:33422114..33424496,2	K562	blood:
15	chr6:33285422..33287849-chr6:33385883..33388858,2	MCF-7	breast:
16	chr6:33264858..33266557-chr6:33385922..33387524,2	K562	blood:
17	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
18	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
19	chr6:33242542..33249529-chr6:33381747..33388277,18	K562	blood:
20	chr6:33279097..33283546-chr6:33386045..33390564,5	MCF-7	breast:
21	chr6:33371627..33375942-chr6:33381284..33387543,6	K562	blood:
22	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:

No data

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3325690	chr6:33386999-33389547	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33386000-33387800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:33386000-33392600	Weak transcription	Gastric	stomach
3	chr6:33386200-33387200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr6:33386200-33387800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:33386200-33387800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:33386200-33387800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:33386200-33387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:33386200-33387800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr6:33386200-33387800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:33386200-33387800	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr6:33386200-33387800	Flanking Active TSS	K562	blood
12	chr6:33386200-33388000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:33386200-33388000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:33386200-33389400	Flanking Active TSS	Dnd41	blood
15	chr6:33386400-33387200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:33386400-33387200	Flanking Active TSS	Fetal Brain Female	brain
17	chr6:33386400-33387200	Enhancers	Small Intestine	intestine
18	chr6:33386400-33387400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:33386400-33387400	Enhancers	Spleen	Spleen
20	chr6:33386400-33387600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:33386400-33387600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr6:33386400-33387600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:33386400-33387800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:33386400-33387800	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr6:33386600-33387200	Enhancers	Fetal Intestine Small	intestine
26	chr6:33386600-33387400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:33386600-33387400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:33386600-33387400	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:33386600-33387400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:33386600-33387400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:33386600-33387400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:33386600-33387400	Enhancers	Brain Anterior Caudate	brain
33	chr6:33386600-33387400	Enhancers	Placenta	Placenta
34	chr6:33386600-33387400	Enhancers	Fetal Stomach	stomach
35	chr6:33386600-33387400	Enhancers	Fetal Thymus	thymus
36	chr6:33386600-33387400	Enhancers	NH-A	brain
37	chr6:33386600-33387600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:33386600-33387600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:33386600-33387600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr6:33386600-33387600	Weak transcription	Aorta	Aorta
41	chr6:33386600-33387600	Enhancers	Fetal Intestine Large	intestine
42	chr6:33386600-33387600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr6:33386600-33387600	Enhancers	Fetal Lung	lung
44	chr6:33386600-33387600	Enhancers	Fetal Muscle Trunk	muscle
45	chr6:33386600-33387600	Weak transcription	Ovary	ovary
46	chr6:33386600-33387600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr6:33386600-33387800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr6:33386600-33387800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr6:33386600-33387800	Enhancers	Stomach Mucosa	stomach
50	chr6:33386600-33388000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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