Variant report

Variant	rs555608864
Chromosome Location	chr6:33378958-33378959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:202)
CpG islands
(count:183)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:202 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr6:33378771-33379217	PFSK-1	brain:	n/a	n/a
2	ESRRA	chr6:33377416-33379769	GM12878	blood:	n/a	chr6:33378216-33378229 chr6:33378393-33378411 chr6:33379217-33379227 chr6:33379217-33379226 chr6:33379195-33379214 chr6:33377801-33377813
3	POLR2A	chr6:33377702-33379363	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr6:33377525-33379636	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:33378421-33379179	GM12892	blood:	n/a	n/a
6	CTCF	chr6:33378945-33379018	GM19240	blood:	n/a	chr6:33379001-33379014
7	CTCF	chr6:33378955-33379042	GM19239	blood:	n/a	chr6:33379001-33379014
8	POLR2A	chr6:33378802-33379173	U87	brain:	n/a	n/a
9	CTCF	chr6:33378948-33379075	MCF-7	breast:	n/a	chr6:33379001-33379014
10	E2F4	chr6:33377756-33379148	K562	blood:	n/a	chr6:33378144-33378155
11	CTCF	chr6:33378899-33379018	Lung_OC	lung:	n/a	chr6:33379001-33379014
12	CTCF	chr6:33378900-33379050	GM12867	blood:	n/a	chr6:33379001-33379014
13	POLR2A	chr6:33376663-33380029	HepG2	liver:	n/a	n/a
14	CTCF	chr6:33378942-33379060	K562	blood:	n/a	chr6:33379001-33379014
15	REST	chr6:33377527-33379367	H1-neurons	neurons:	n/a	chr6:33378320-33378333
16	CTCF	chr6:33378907-33379096	GM12892	blood:	n/a	chr6:33379001-33379014
17	ETS1	chr6:33378792-33379248	K562	blood:	n/a	chr6:33379192-33379203
18	STAT1	chr6:33378854-33378972	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:33378777-33379090	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr6:33378912-33379042	SK-N-SH_RA	brain:	n/a	chr6:33379001-33379014
21	POLR2A	chr6:33377167-33378995	K562	blood:	n/a	n/a
22	POLR2A	chr6:33378746-33379142	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr6:33376768-33379235	PFSK-1	brain:	n/a	n/a
24	TCF12	chr6:33378709-33379252	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr6:33378880-33379030	AoAF	blood vessel:	n/a	chr6:33379001-33379014
26	POLR2A	chr6:33376964-33379018	K562	blood:	n/a	n/a
27	POLR2A	chr6:33377397-33379021	Raji	blood:	n/a	n/a
28	TBL1XR1	chr6:33378891-33379005	K562	blood:	n/a	n/a
29	MAX	chr6:33378756-33379348	K562	blood:	n/a	n/a
30	IRF1	chr6:33377757-33378983	K562	blood:	n/a	chr6:33378430-33378444 chr6:33377880-33377894 chr6:33378180-33378194 chr6:33378049-33378063 chr6:33378004-33378018 chr6:33378404-33378418 chr6:33378348-33378362 chr6:33378109-33378118
31	POLR2A	chr6:33378799-33379173	U87	brain:	n/a	n/a
32	POLR2A	chr6:33377729-33379203	H1-neurons	neurons:	n/a	n/a
33	CTCF	chr6:33378801-33379199	K562	blood:	n/a	chr6:33379001-33379014
34	POLR2A	chr6:33377681-33379306	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:33377829-33379042	GM10847	blood:	n/a	n/a
36	POLR2A	chr6:33378741-33379253	ECC-1	luminal epithelium:	n/a	n/a
37	MAX	chr6:33377721-33379073	K562	blood:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
38	CTCF	chr6:33378900-33379050	GM12868	blood:	n/a	chr6:33379001-33379014
39	POLR2A	chr6:33378747-33378972	A549	lung:	n/a	n/a
40	POLR2A	chr6:33378753-33379026	SK-N-SH	brain:	n/a	n/a
41	TBL1XR1	chr6:33378522-33378987	K562	blood:	n/a	n/a
42	CTCF	chr6:33378880-33379030	HRE	kidney:	n/a	chr6:33379001-33379014
43	ELF1	chr6:33378768-33379039	GM12878	blood:	n/a	n/a
44	CTCF	chr6:33378852-33379095	GM12878	blood:	n/a	chr6:33379001-33379014
45	CTCF	chr6:33378900-33379050	GM12874	blood:	n/a	chr6:33379001-33379014
46	CTCF	chr6:33378920-33379070	GM12869	blood:	n/a	chr6:33379001-33379014
47	POLR2A	chr6:33378417-33379440	GM12878	blood:	n/a	n/a
48	HEY1	chr6:33378400-33379081	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:33377283-33379114	NB4	blood:	n/a	n/a
50	SIN3AK20	chr6:33378886-33379065	SK-N-SH	brain:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33378936-33378986	HRE	kidney:	n/a
2	chr6:33378951-33379001	HCM	heart:	n/a
3	chr6:33378936-33378986	H1-hESC	embryonic stem cell:	embryo
4	chr6:33378951-33379001	CMK	blood:	n/a
5	chr6:33378912-33378962	SK-N-SH	brain:	n/a
6	chr6:33378912-33378962	BJ	skin:	n/a
7	chr6:33378936-33378986	AoSMC	blood vessel:	n/a
8	chr6:33378912-33378962	NH-A	brain:	n/a
9	chr6:33378936-33378986	PANC-1	pancreas:	n/a
10	chr6:33378951-33379001	HepG2	liver:	n/a
11	chr6:33378951-33379001	AG09319	gingival:	n/a
12	chr6:33378936-33378986	NT2-D1	testis:	n/a
13	chr6:33378951-33379001	Hela-S3	cervix:	n/a
14	chr6:33378951-33379001	AG10803	skin:	n/a
15	chr6:33378936-33378986	HEEpiC	esophagus:	n/a
16	chr6:33378936-33378986	HCM	heart:	n/a
17	chr6:33378936-33378986	AG09309	skin:	n/a
18	chr6:33378912-33378962	HCF	heart:	n/a
19	chr6:33378951-33379001	AG04449	skin:	fetal
20	chr6:33378936-33378986	HepG2	liver:	n/a
21	chr6:33378936-33378986	HPAEpiC	pulmonary alveolar:	n/a
22	chr6:33378912-33378962	AG10803	skin:	n/a
23	chr6:33378912-33378962	NHBE	bronchial:	n/a
24	chr6:33378912-33378962	NT2-D1	testis:	n/a
25	chr6:33378936-33378986	AG09319	gingival:	n/a
26	chr6:33378912-33378962	ECC-1	luminal epithelium:	n/a
27	chr6:33378951-33379001	T-47D	breast:	n/a
28	chr6:33378912-33378962	Hepatocyte	liver:	n/a
29	chr6:33378951-33379001	HRE	kidney:	n/a
30	chr6:33378912-33378962	AG04450	lung:	fetal
31	chr6:33378912-33378962	A549	lung:	n/a
32	chr6:33378951-33379001	SKMC	muscle:	n/a
33	chr6:33378951-33379001	SK-N-SH	brain:	n/a
34	chr6:33378936-33378986	HRCEpiC	kidney:	n/a
35	chr6:33378912-33378962	HRPEpiC	eye:	n/a
36	chr6:33378912-33378962	Hela-S3	cervix:	n/a
37	chr6:33378951-33379001	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:33378912-33378962	HL-60	blood:	n/a
39	chr6:33378912-33378962	PFSK-1	brain:	n/a
40	chr6:33378912-33378962	GM12892	blood:	n/a
41	chr6:33378912-33378962	MCF-7	breast:	n/a
42	chr6:33378912-33378962	CMK	blood:	n/a
43	chr6:33378936-33378986	Caco-2	colon:	n/a
44	chr6:33378912-33378962	GM12891	blood:	n/a
45	chr6:33378936-33378986	HEK293	kidney:	embryo
46	chr6:33378936-33378986	BE2_C	brain:	n/a
47	chr6:33378936-33378986	U87	brain:	n/a
48	chr6:33378936-33378986	HRPEpiC	eye:	n/a
49	chr6:33378951-33379001	RPTEC	kidney:	n/a
50	chr6:33378951-33379001	PFSK-1	brain:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr6:32938764..32940269-chr6:33377609..33379519,2	MCF-7	breast:
3	chr6:33377039..33379614-chr6:33421781..33424452,2	K562	blood:
4	chr1:28974856..28975665-chr6:33378255..33378960,2	Hela-S3	cervix:
5	chr6:33377496..33379251-chr6:33661661..33664420,2	MCF-7	breast:
6	chr6:33261265..33262842-chr6:33377823..33379768,2	K562	blood:
7	chr6:33237157..33241221-chr6:33375922..33380109,6	MCF-7	breast:
8	chr6:33357351..33361150-chr6:33373102..33380127,12	MCF-7	breast:
9	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
10	chr6:30710804..30712449-chr6:33376908..33379450,2	MCF-7	breast:
11	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
12	chr6:33166881..33169550-chr6:33376292..33379063,3	K562	blood:
13	chr6:33215707..33217514-chr6:33377026..33379165,2	K562	blood:
14	chr6:33358222..33360525-chr6:33377821..33380717,3	MCF-7	breast:
15	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
16	chr6:33280452..33282497-chr6:33377188..33378997,2	MCF-7	breast:
17	chr6:33255152..33256710-chr6:33377924..33379590,2	K562	blood:
18	chr6:33263073..33268205-chr6:33376944..33380191,7	MCF-7	breast:
19	chr6:33261342..33263204-chr6:33376924..33379323,2	K562	blood:
20	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
21	chr6:33356271..33363521-chr6:33371085..33380351,32	K562	blood:
22	chr6:33244680..33251060-chr6:33375427..33382644,12	MCF-7	breast:
23	chr10:134145639..134146221-chr6:33378370..33378986,2	Hela-S3	cervix:
24	chr6:33242863..33248981-chr6:33374531..33379553,10	MCF-7	breast:

No data

Variant related genes	Relation type
PHF1	TF binding region
PHF1	CpG island
ENSG00000237649	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000269490	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000232940	Chromatin interaction
ENSG00000148814	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3439586	chr6:33376999-33380347	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
4	esv3335292	chr6:33377349-33379972	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
5	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
6	esv3354637	chr6:33377724-33379522	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 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	chr6:33376600-33380000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:33377000-33379600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr6:33377200-33379200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:33377200-33379200	Active TSS	Colonic Mucosa	Colon
5	chr6:33377200-33379400	Active TSS	Rectal Smooth Muscle	rectum
6	chr6:33377200-33379600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:33377200-33379600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:33377200-33379800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:33377200-33379800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:33377200-33380000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:33377400-33379000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:33377400-33379200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:33377400-33379400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:33377400-33379400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:33377400-33379400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:33377400-33379400	Active TSS	Fetal Brain Female	brain
17	chr6:33377400-33379400	Active TSS	A549	lung
18	chr6:33377400-33379600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:33377400-33379600	Active TSS	Brain Substantia Nigra	brain
20	chr6:33377400-33379800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:33377400-33379800	Active TSS	Right Ventricle	heart
22	chr6:33377600-33379200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:33377600-33379400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:33377600-33379400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:33377600-33379400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:33377600-33379400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:33377600-33379400	Active TSS	Duodenum Mucosa	Duodenum
28	chr6:33377600-33379400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr6:33377600-33379400	Active TSS	Lung	lung
30	chr6:33377600-33379600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:33377600-33379600	Active TSS	Esophagus	oesophagus
32	chr6:33377600-33379600	Active TSS	Fetal Kidney	kidney
33	chr6:33377600-33379600	Active TSS	Left Ventricle	heart
34	chr6:33377600-33379600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr6:33377600-33379600	Active TSS	HSMMtube	muscle
36	chr6:33377600-33379800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:33377600-33379800	Active TSS	Ovary	ovary
38	chr6:33377600-33379800	Active TSS	Psoas Muscle	Psoas
39	chr6:33377600-33380000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:33377600-33380000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:33377600-33380000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:33377600-33380000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr6:33377800-33379000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr6:33377800-33379000	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr6:33377800-33379200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:33377800-33379200	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr6:33377800-33379200	Active TSS	Primary T cells from cord blood	blood
48	chr6:33377800-33379200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr6:33377800-33379200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:33377800-33379200	Active TSS	Adipose Nuclei	Adipose

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