Variant report

Variant	rs181543604
Chromosome Location	chr6:33379488-33379489
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	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
2	POLR2A	chr6:33377525-33379636	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:33376663-33380029	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:33377325-33379654	IMR90	lung:	n/a	n/a
5	POLR2A	chr6:33377189-33379499	Hela-S3	cervix:	n/a	n/a
6	HCFC1	chr6:33377063-33379614	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:33377155-33379598	K562	blood:	n/a	n/a
8	MXI1	chr6:33377191-33379613	SK-N-SH	brain:	n/a	n/a
9	MAZ	chr6:33377480-33379775	IMR90	lung:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
10	MXI1	chr6:33377505-33379770	IMR90	lung:	n/a	n/a
11	HMGN3	chr6:33379393-33379586	K562	blood:	n/a	n/a

No data

(count:16 , 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	chr6:33261265..33262842-chr6:33377823..33379768,2	K562	blood:
5	chr6:33237157..33241221-chr6:33375922..33380109,6	MCF-7	breast:
6	chr6:33357351..33361150-chr6:33373102..33380127,12	MCF-7	breast:
7	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
8	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
9	chr6:33358222..33360525-chr6:33377821..33380717,3	MCF-7	breast:
10	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
11	chr6:33255152..33256710-chr6:33377924..33379590,2	K562	blood:
12	chr6:33263073..33268205-chr6:33376944..33380191,7	MCF-7	breast:
13	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
14	chr6:33356271..33363521-chr6:33371085..33380351,32	K562	blood:
15	chr6:33244680..33251060-chr6:33375427..33382644,12	MCF-7	breast:
16	chr6:33242863..33248981-chr6:33374531..33379553,10	MCF-7	breast:

No data

Variant related genes	Relation type
PHF1	TF binding region
ENSG00000237441	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000235863	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	chr6:33377200-33379600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:33377200-33379600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:33377200-33379800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:33377200-33379800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:33377200-33380000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:33377400-33379600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:33377400-33379600	Active TSS	Brain Substantia Nigra	brain
10	chr6:33377400-33379800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:33377400-33379800	Active TSS	Right Ventricle	heart
12	chr6:33377600-33379600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:33377600-33379600	Active TSS	Esophagus	oesophagus
14	chr6:33377600-33379600	Active TSS	Fetal Kidney	kidney
15	chr6:33377600-33379600	Active TSS	Left Ventricle	heart
16	chr6:33377600-33379600	Active TSS	Placenta Amnion	Placenta Amnion
17	chr6:33377600-33379600	Active TSS	HSMMtube	muscle
18	chr6:33377600-33379800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr6:33377600-33379800	Active TSS	Ovary	ovary
20	chr6:33377600-33379800	Active TSS	Psoas Muscle	Psoas
21	chr6:33377600-33380000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:33377600-33380000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:33377600-33380000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:33377600-33380000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr6:33377800-33379600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:33377800-33379600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:33377800-33379600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:33377800-33379600	Active TSS	Aorta	Aorta
29	chr6:33377800-33379600	Active TSS	Brain Hippocampus Middle	brain
30	chr6:33377800-33379600	Active TSS	Gastric	stomach
31	chr6:33377800-33379800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:33377800-33380000	Active TSS	Colon Smooth Muscle	Colon
33	chr6:33378000-33379600	Active TSS	HMEC	breast
34	chr6:33378000-33379600	Active TSS	NHDF-Ad	bronchial
35	chr6:33378000-33379800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr6:33378000-33379800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:33378000-33379800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:33378000-33379800	Active TSS	Brain Angular Gyrus	brain
39	chr6:33378000-33379800	Active TSS	Brain Anterior Caudate	brain
40	chr6:33378000-33379800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr6:33378000-33379800	Active TSS	HSMM	muscle
42	chr6:33378000-33379800	Active TSS	NHLF	lung
43	chr6:33378000-33380000	Active TSS	Pancreas	Pancrea
44	chr6:33378000-33380200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr6:33378200-33379600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:33378400-33379800	Active TSS	Right Atrium	heart
47	chr6:33378800-33379600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:33378800-33380400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
49	chr6:33379000-33379600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr6:33379000-33379600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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