Variant report

Variant	rs559034004
Chromosome Location	chr1:179847690-179847691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr1:179846588-179847904	K562	blood:	n/a	n/a
2	POLR2A	chr1:179845358-179848183	MCF10A-Er-Src	breast:	n/a	n/a
3	HCFC1	chr1:179844484-179847794	Hela-S3	cervix:	n/a	n/a
4	JUN	chr1:179846331-179848056	K562	blood:	n/a	n/a
5	POLR2A	chr1:179846191-179848286	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:179847685-179847735	HRPEpiC	eye:	n/a
2	chr1:179847685-179847735	HCT-116	colon:	n/a
3	chr1:179847685-179847735	AG09319	gingival:	n/a
4	chr1:179847685-179847735	SKMC	muscle:	n/a
5	chr1:179847685-179847735	MCF10A-Er-Src	breast:	n/a
6	chr1:179847685-179847735	PFSK-1	brain:	n/a
7	chr1:179847685-179847735	SAEC	small airway:	n/a
8	chr1:179847685-179847735	HCPEpiC	choroid plexus:	n/a
9	chr1:179847685-179847735	HEK293	kidney:	embryo
10	chr1:179847685-179847735	BJ	skin:	n/a
11	chr1:179847685-179847735	HMEC	breast:	n/a
12	chr1:179847685-179847735	HRCEpiC	kidney:	n/a
13	chr1:179847685-179847735	NH-A	brain:	n/a
14	chr1:179847685-179847735	AG09309	skin:	n/a
15	chr1:179847685-179847735	HCF	heart:	n/a
16	chr1:179847685-179847735	CMK	blood:	n/a
17	chr1:179847685-179847735	LNCaP	prostate:	n/a
18	chr1:179847685-179847735	GM19239	blood:	n/a
19	chr1:179847685-179847735	HRE	kidney:	n/a
20	chr1:179847685-179847735	Jurkat	blood:	n/a
21	chr1:179847685-179847735	U87	brain:	n/a
22	chr1:179847685-179847735	SK-N-SH_RA	brain:	n/a
23	chr1:179847685-179847735	Caco-2	colon:	n/a
24	chr1:179847685-179847735	GM12891	blood:	n/a
25	chr1:179847685-179847735	ProgFib	skin:	n/a
26	chr1:179847685-179847735	SK-N-SH	brain:	n/a
27	chr1:179847685-179847735	HUVEC	blood vessel:	n/a
28	chr1:179847685-179847735	Hepatocyte	liver:	n/a
29	chr1:179847685-179847735	GM06990	blood:	n/a
30	chr1:179847685-179847735	GM12892	blood:	n/a
31	chr1:179847685-179847735	SK-N-MC	brain:	n/a
32	chr1:179847685-179847735	BE2_C	brain:	n/a
33	chr1:179847685-179847735	NHDF-neo	bronchial:	n/a
34	chr1:179847685-179847735	HL-60	blood:	n/a
35	chr1:179847685-179847735	PrEC	prostate:	n/a
36	chr1:179847685-179847735	GM12878	blood:	n/a
37	chr1:179847685-179847735	HCM	heart:	n/a
38	chr1:179847685-179847735	NHBE	bronchial:	n/a
39	chr1:179847685-179847735	AG04450	lung:	fetal
40	chr1:179847685-179847735	NT2-D1	testis:	n/a
41	chr1:179847685-179847735	AG10803	skin:	n/a
42	chr1:179847685-179847735	HepG2	liver:	n/a
43	chr1:179847685-179847735	IMR90	lung:	fetal
44	chr1:179847685-179847735	K562	blood:	n/a
45	chr1:179847685-179847735	NB4	blood:	n/a
46	chr1:179847685-179847735	AG04449	skin:	fetal
47	chr1:179847685-179847735	T-47D	breast:	n/a
48	chr1:179847685-179847735	ECC-1	luminal epithelium:	n/a
49	chr1:179847685-179847735	MCF-7	breast:	n/a
50	chr1:179847685-179847735	ovcar-3	ovarian:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179843719..179847778-chr1:180121939..180127812,8	K562	blood:
2	chr1:179845348..179847730-chr1:179923811..179926342,3	MCF-7	breast:
3	chr1:179832603..179840385-chr1:179843229..179848672,10	MCF-7	breast:
4	chr1:179847679..179853408-chr1:179922379..179926886,15	MCF-7	breast:
5	chr1:179845449..179848601-chr1:179867688..179872232,4	K562	blood:
6	chr1:179844894..179847778-chr1:180122782..180124340,2	K562	blood:
7	chr1:179844528..179853403-chr1:179920065..179927793,25	K562	blood:

No data

Variant related genes	Relation type
TOR1AIP2	TF binding region
TOR1AIP1	TF binding region
TOR1AIP1	CpG island
TOR1AIP2	CpG island
ENSG00000135837	Chromatin interaction
ENSG00000258664	Chromatin interaction
ENSG00000260360	Chromatin interaction
ENSG00000116260	Chromatin interaction
ENSG00000264916	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	nsv1005808	chr1:179783922-179864710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005051	chr1:179785643-179861950	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv519273	chr1:179831248-179847877	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv518936	chr1:179847402-179858333	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179846000-179847800	Active TSS	GM12878-XiMat	blood
2	chr1:179847000-179850800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:179847200-179849800	Weak transcription	HSMMtube	muscle
4	chr1:179847200-179850400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:179847200-179850600	Weak transcription	Fetal Thymus	thymus
6	chr1:179847200-179850800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:179847200-179851000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:179847200-179851000	Weak transcription	Gastric	stomach
9	chr1:179847200-179851000	Weak transcription	Lung	lung
10	chr1:179847400-179847800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:179847400-179847800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:179847400-179847800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:179847400-179848000	Enhancers	Stomach Mucosa	stomach
14	chr1:179847400-179849000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:179847400-179849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:179847400-179849000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:179847400-179849600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:179847400-179849800	Weak transcription	Primary T cells from cord blood	blood
19	chr1:179847400-179849800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:179847400-179849800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:179847400-179849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:179847400-179849800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:179847400-179850200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:179847400-179850200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:179847400-179850200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:179847400-179850200	Weak transcription	HMEC	breast
27	chr1:179847400-179850200	Weak transcription	NHEK	skin
28	chr1:179847400-179850200	Weak transcription	Osteobl	bone
29	chr1:179847400-179850400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:179847400-179850400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:179847400-179850400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:179847400-179850400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:179847400-179850400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:179847400-179850400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:179847400-179850400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:179847400-179850400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:179847400-179850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:179847400-179850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:179847400-179850400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:179847400-179850400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:179847400-179850400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:179847400-179850400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:179847400-179850400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:179847400-179850400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:179847400-179850400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:179847400-179850400	Weak transcription	Adipose Nuclei	Adipose
47	chr1:179847400-179850400	Enhancers	Liver	Liver
48	chr1:179847400-179850400	Weak transcription	Brain Angular Gyrus	brain
49	chr1:179847400-179850400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:179847400-179850400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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