Variant report

Variant	rs551536547
Chromosome Location	chr1:47081886-47081887
allele	C/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	PAX5	chr1:47081838-47082561	GM12878	blood:	n/a	n/a
2	RCOR1	chr1:47081533-47083316	K562	blood:	n/a	n/a
3	NFIC	chr1:47081831-47082133	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:47081652-47082834	K562	blood:	n/a	n/a
5	RCOR1	chr1:47080951-47083959	IMR90	lung:	n/a	n/a
6	POLR2A	chr1:47081453-47083127	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr1:47081882-47082932	K562	blood:	n/a	n/a
8	STAT1	chr1:47081878-47082815	GM12878	blood:	n/a	chr1:47082628-47082637 chr1:47082315-47082326 chr1:47082623-47082643 chr1:47082629-47082638 chr1:47082629-47082637
9	SMARCB1	chr1:47081719-47082955	Hela-S3	cervix:	n/a	n/a
10	ZBTB7A	chr1:47081864-47082758	K562	blood:	n/a	n/a
11	SRF	chr1:47081807-47083153	HCT-116	colon:	n/a	n/a
12	ZBTB7A	chr1:47081858-47082896	ECC-1	luminal epithelium:	n/a	n/a
13	ELK1	chr1:47081418-47082916	GM12878	blood:	n/a	n/a
14	ELF1	chr1:47081404-47082893	GM12878	blood:	n/a	n/a
15	EGR1	chr1:47081711-47082338	ECC-1	luminal epithelium:	n/a	chr1:47082045-47082059 chr1:47082049-47082058 chr1:47082049-47082060
16	POLR2A	chr1:47081085-47082992	GM12891	blood:	n/a	n/a
17	CHD2	chr1:47081354-47082855	GM12878	blood:	n/a	n/a
18	GABPA	chr1:47081865-47082689	K562	blood:	n/a	chr1:47082336-47082345
19	CREB1	chr1:47081818-47082900	GM12878	blood:	n/a	n/a
20	TBL1XR1	chr1:47081487-47082958	GM12878	blood:	n/a	n/a
21	TEAD4	chr1:47081583-47082540	K562	blood:	n/a	n/a
22	SP1	chr1:47081875-47082302	GM12878	blood:	n/a	chr1:47082153-47082163 chr1:47082153-47082163 chr1:47082167-47082176 chr1:47082160-47082174 chr1:47082165-47082177 chr1:47082052-47082062
23	PML	chr1:47081709-47082796	GM12878	blood:	n/a	n/a
24	CHD2	chr1:47081678-47081985	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:47081829-47082986	PBDE	blood:	n/a	n/a
26	TEAD4	chr1:47081886-47082822	ECC-1	luminal epithelium:	n/a	n/a
27	RCOR1	chr1:47081864-47082895	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:47081083-47082978	GM12878	blood:	n/a	n/a
29	WRNIP1	chr1:47081432-47083222	GM12878	blood:	n/a	n/a
30	EGR1	chr1:47081826-47082290	ECC-1	luminal epithelium:	n/a	chr1:47082045-47082059 chr1:47082049-47082058 chr1:47082049-47082060
31	POLR2A	chr1:47081813-47082790	GM12892	blood:	n/a	n/a
32	BHLHE40	chr1:47081880-47083091	K562	blood:	n/a	n/a
33	POLR2A	chr1:47081871-47082917	IMR90	lung:	n/a	n/a
34	EGR1	chr1:47081882-47082215	GM12878	blood:	n/a	chr1:47082045-47082059 chr1:47082049-47082058 chr1:47082049-47082060
35	MAZ	chr1:47081502-47083027	GM12878	blood:	n/a	n/a
36	ZC3H11A	chr1:47081859-47081925	K562	blood:	n/a	n/a
37	RUNX3	chr1:47081318-47082746	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:47081012-47082875	GM19193	blood:	n/a	n/a
39	POLR2A	chr1:47081258-47082998	GM12878	blood:	n/a	n/a
40	CHD2	chr1:47081788-47081989	K562	blood:	n/a	n/a
41	EGR1	chr1:47081853-47082336	GM12878	blood:	n/a	chr1:47082045-47082059 chr1:47082049-47082058 chr1:47082049-47082060
42	POLR2A	chr1:47081882-47082849	K562	blood:	n/a	n/a
43	FOSL1	chr1:47081859-47082294	H1-hESC	embryonic stem cell:	n/a	n/a
44	SMARCC1	chr1:47081534-47083403	Hela-S3	cervix:	n/a	n/a
45	MAX	chr1:47081820-47082895	Hela-S3	cervix:	n/a	n/a
46	CTBP2	chr1:47081874-47083178	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZNF143	chr1:47081743-47082704	K562	blood:	n/a	n/a
48	EGR1	chr1:47081864-47082274	MCF-7	breast:	n/a	chr1:47082045-47082059 chr1:47082049-47082058 chr1:47082049-47082060
49	ZNF143	chr1:47081791-47082803	GM12878	blood:	n/a	n/a
50	RFX5	chr1:47081714-47082719	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47079661..47082285-chr1:47135813..47137705,2	K562	blood:
2	chr1:47069390..47072755-chr1:47079314..47082367,4	MCF-7	breast:
3	chr1:47080354..47082092-chr1:47110886..47112430,2	MCF-7	breast:
4	chr1:47068429..47072503-chr1:47081068..47085092,4	MCF-7	breast:
5	chr1:47080724..47082396-chr1:47183672..47185631,2	MCF-7	breast:
6	chr1:47078421..47080865-chr1:47080975..47083544,2	MCF-7	breast:

Variant related genes	Relation type
MOB3C	TF binding region
ENSG00000123472	Chromatin interaction
ENSG00000079277	Chromatin interaction
ENSG00000159658	Chromatin interaction
ENSG00000142961	Chromatin interaction
ENSG00000186118	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv522319	chr1:47080741-47094267	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47077000-47082000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:47079000-47082000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr1:47079000-47082000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:47080200-47082000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:47080200-47082200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:47080400-47082000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:47080600-47082400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:47080800-47082000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr1:47080800-47082000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:47080800-47082000	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr1:47080800-47082000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr1:47080800-47082000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr1:47081000-47082000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:47081000-47082000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:47081000-47082000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr1:47081000-47082000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr1:47081000-47082000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:47081000-47082000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:47081000-47082000	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr1:47081000-47082000	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr1:47081000-47082000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr1:47081000-47082000	Flanking Active TSS	Placenta	Placenta
23	chr1:47081000-47082000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:47081000-47082000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:47081000-47082000	Flanking Active TSS	Hela-S3	cervix
26	chr1:47081000-47082000	Flanking Active TSS	NHEK	skin
27	chr1:47081000-47082200	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr1:47081000-47082200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:47081200-47082000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:47081200-47082000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr1:47081200-47082000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr1:47081200-47082000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr1:47081200-47082000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:47081200-47082000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:47081200-47082000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:47081200-47082000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:47081200-47082000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr1:47081200-47082000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:47081200-47082000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:47081200-47082000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:47081200-47082000	Flanking Active TSS	Liver	Liver
42	chr1:47081200-47082000	Flanking Active TSS	Colonic Mucosa	Colon
43	chr1:47081200-47082000	Flanking Active TSS	Fetal Lung	lung
44	chr1:47081200-47082000	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr1:47081200-47082000	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr1:47081200-47082000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr1:47081200-47082000	Flanking Active TSS	Right Ventricle	heart
48	chr1:47081200-47082000	Flanking Active TSS	Thymus	Thymus
49	chr1:47081200-47082000	Flanking Active TSS	Dnd41	blood
50	chr1:47081200-47082000	Flanking Active TSS	Osteobl	bone

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