Variant report

Variant	rs3811402
Chromosome Location	chr1:151119745-151119746
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	MAZ	chr1:151118814-151119906	K562	blood:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
2	MAX	chr1:151118622-151119946	MCF-7	breast:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
3	SIN3A	chr1:151118139-151119889	H1-hESC	embryonic stem cell:	n/a	chr1:151119498-151119511
4	POLR2A	chr1:151118551-151120473	HepG2	liver:	n/a	n/a
5	REST	chr1:151117516-151120216	H1-neurons	neurons:	n/a	chr1:151119045-151119055 chr1:151117927-151117947
6	ZNF263	chr1:151119023-151119922	K562	blood:	n/a	chr1:151119781-151119790
7	MAX	chr1:151118369-151119793	A549	lung:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
8	MXI1	chr1:151118155-151120020	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr1:151118714-151119751	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr1:151118150-151119997	IMR90	lung:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
11	POLR2A	chr1:151119594-151119748	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:151118858-151119995	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr1:151118808-151119753	K562	blood:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
14	MXI1	chr1:151118187-151120005	IMR90	lung:	n/a	n/a
15	MXI1	chr1:151118908-151119937	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:151117648-151119925	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr1:151118779-151119839	K562	blood:	n/a	n/a
18	ZNF263	chr1:151118454-151119989	HEK293-T-REx	kidney:	n/a	chr1:151119781-151119790 chr1:151118743-151118752 chr1:151118739-151118748
19	ELF1	chr1:151118742-151119763	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:151118745-151119901	PFSK-1	brain:	n/a	n/a
21	HMGN3	chr1:151118728-151119988	K562	blood:	n/a	n/a
22	E2F6	chr1:151118798-151119763	K562	blood:	n/a	chr1:151119269-151119279 chr1:151118868-151118877 chr1:151119143-151119152 chr1:151118840-151118849
23	TBL1XR1	chr1:151119636-151119783	K562	blood:	n/a	n/a
24	UBTF	chr1:151118727-151119841	K562	blood:	n/a	n/a
25	MAX	chr1:151118812-151119893	K562	blood:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
26	POLR2A	chr1:151117430-151119873	H1-neurons	neurons:	n/a	n/a
27	MAX	chr1:151118156-151119923	H1-hESC	embryonic stem cell:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965

No.	Distal block	Cell Line	Cell type
1	chr1:151103786..151106331-chr1:151117499..151120768,3	MCF-7	breast:
2	chr1:150979021..150981360-chr1:151118629..151120745,2	K562	blood:
3	chr1:151032665..151034303-chr1:151119415..151121131,2	MCF-7	breast:
4	chr1:151114895..151122057-chr1:151125026..151130825,9	MCF-7	breast:
5	chr1:151042933..151043519-chr1:151119223..151119791,2	MCF-7	breast:
6	chr1:151117604..151120749-chr1:151128246..151131666,4	MCF-7	breast:
7	chr1:151117625..151120818-chr1:151135402..151140051,4	MCF-7	breast:
8	chr1:151106109..151110392-chr1:151117941..151122227,5	K562	blood:
9	chr1:151118376..151121066-chr1:151225165..151227350,2	MCF-7	breast:
10	chr1:151118809..151120860-chr1:151252294..151254808,2	K562	blood:
11	chr1:151117616..151120860-chr1:151252294..151255501,4	K562	blood:
12	chr1:151106109..151108676-chr1:151117941..151119953,3	K562	blood:
13	chr1:151116657..151121305-chr1:151127749..151129795,4	K562	blood:

Variant related genes	Relation type
SEMA6C	TF binding region
ENSG00000143458	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000261168	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000143434	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11204782	1.00[ASN][1000 genomes]
rs11807526	0.97[ASN][1000 genomes]
rs11807847	0.97[ASN][1000 genomes]
rs12087892	1.00[ASN][1000 genomes]
rs1621016	1.00[AFR][1000 genomes]
rs2067606	0.90[ASN][1000 genomes]
rs2479380	1.00[AFR][1000 genomes]
rs41305062	0.85[ASN][1000 genomes]
rs56033976	0.89[ASN][1000 genomes]
rs56090305	0.88[ASN][1000 genomes]
rs56299877	0.97[ASN][1000 genomes]
rs59578580	0.82[ASN][1000 genomes]
rs7522302	0.89[ASN][1000 genomes]

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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151117400-151120200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:151117800-151120000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:151118000-151119800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:151118000-151119800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:151118200-151119800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:151118200-151119800	Active TSS	Aorta	Aorta
7	chr1:151118200-151119800	Active TSS	Colon Smooth Muscle	Colon
8	chr1:151118200-151119800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:151118200-151120000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:151118400-151120000	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr1:151118600-151120000	Active TSS	Hela-S3	cervix
12	chr1:151118800-151119800	Bivalent/Poised TSS	HepG2	liver
13	chr1:151119000-151119800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:151119200-151119800	Flanking Active TSS	HMEC	breast
15	chr1:151119200-151120000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr1:151119200-151120000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr1:151119200-151120000	Flanking Active TSS	HUVEC	blood vessel
18	chr1:151119200-151120000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:151119200-151120200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:151119200-151120200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:151119400-151119800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:151119400-151119800	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr1:151119400-151119800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr1:151119400-151119800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
25	chr1:151119400-151119800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:151119400-151119800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:151119400-151119800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:151119400-151119800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:151119400-151119800	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr1:151119400-151119800	Flanking Active TSS	Placenta	Placenta
31	chr1:151119400-151119800	Flanking Active TSS	Fetal Stomach	stomach
32	chr1:151119400-151119800	Flanking Active TSS	Pancreas	Pancrea
33	chr1:151119400-151119800	Flanking Active TSS	A549	lung
34	chr1:151119400-151119800	Flanking Active TSS	NH-A	brain
35	chr1:151119400-151120000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:151119400-151120000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:151119400-151120000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:151119400-151120000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr1:151119400-151120000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr1:151119400-151120000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:151119400-151120000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:151119400-151120000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:151119400-151120000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr1:151119400-151120000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr1:151119400-151120000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:151119400-151120000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:151119400-151120000	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr1:151119400-151120000	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr1:151119400-151120000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
50	chr1:151119400-151120000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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