Variant report

Variant	rs6485699
Chromosome Location	chr11:46867021-46867022
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	MTA3	chr11:46866975-46867461	GM12878	blood:	n/a	n/a
2	JUN	chr11:46866273-46868367	K562	blood:	n/a	n/a
3	POLR2A	chr11:46866992-46868082	HL-60	blood:	n/a	n/a
4	MXI1	chr11:46866648-46868611	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:46867002-46867511	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:46866994-46867567	GM12878	blood:	n/a	n/a
7	MXI1	chr11:46866987-46868672	IMR90	lung:	n/a	n/a
8	POLR2A	chr11:46866943-46868068	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:46866933-46868251	GM12892	blood:	n/a	n/a
10	TBP	chr11:46866970-46868154	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr11:46867004-46868151	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr11:46866929-46867179	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:46866895-46868589	PFSK-1	brain:	n/a	n/a
14	TCF12	chr11:46866978-46868359	A549	lung:	n/a	n/a
15	POLR2A	chr11:46866951-46868379	PBDE	blood:	n/a	n/a
16	BACH1	chr11:46866877-46867115	K562	blood:	n/a	n/a
17	SIN3AK20	chr11:46866975-46868096	K562	blood:	n/a	n/a
18	MAX	chr11:46866980-46868402	MCF-7	breast:	n/a	chr11:46867573-46867582 chr11:46867605-46867615
19	RUNX3	chr11:46867000-46868228	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:46866953-46868099	K562	blood:	n/a	n/a
21	POLR2A	chr11:46866955-46868214	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr11:46867018-46868092	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:46866951-46868204	MCF10A-Er-Src	breast:	n/a	n/a
24	MAX	chr11:46866989-46868379	HCT-116	colon:	n/a	chr11:46867573-46867582 chr11:46867605-46867615
25	BRCA1	chr11:46866954-46867029	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr11:46866936-46868206	GM12878	blood:	n/a	n/a
27	GTF2F1	chr11:46867007-46867463	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:46866762-46868342	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:46866949-46868201	GM12878	blood:	n/a	n/a
30	MXI1	chr11:46866998-46868267	Hela-S3	cervix:	n/a	n/a
31	CREB1	chr11:46866934-46868271	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:46867005-46868175	K562	blood:	n/a	n/a
33	REST	chr11:46866810-46868479	H1-neurons	neurons:	n/a	chr11:46867312-46867321 chr11:46867315-46867328 chr11:46867312-46867332
34	POLR2A	chr11:46866967-46868187	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr11:46866804-46868402	MCF-7	breast:	n/a	n/a
36	MAZ	chr11:46866697-46868286	IMR90	lung:	n/a	chr11:46867573-46867582 chr11:46867605-46867615
37	POLR2A	chr11:46867003-46868361	GM12891	blood:	n/a	n/a
38	POLR2A	chr11:46866929-46868219	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:46866954-46868315	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:46866953-46868136	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:46867012-46868174	GM12892	blood:	n/a	n/a
42	MAX	chr11:46866924-46868291	HepG2	liver:	n/a	chr11:46867573-46867582 chr11:46867605-46867615
43	MYC	chr11:46866966-46867373	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:46867007-46868314	H1-neurons	neurons:	n/a	n/a
45	SIN3A	chr11:46866938-46868326	H1-hESC	embryonic stem cell:	n/a	chr11:46867312-46867325
46	POLR2A	chr11:46866979-46868132	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:46866832-46868356	HUVEC	blood vessel:	n/a	n/a
48	MAX	chr11:46866973-46868273	K562	blood:	n/a	chr11:46867573-46867582 chr11:46867605-46867615
49	MAX	chr11:46867012-46868257	ECC-1	luminal epithelium:	n/a	chr11:46867573-46867582 chr11:46867605-46867615
50	MYBL2	chr11:46866999-46868300	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46865761..46867585-chr11:46880094..46882417,2	MCF-7	breast:
2	chr11:46866389..46868370-chr11:47196689..47198841,3	MCF-7	breast:
3	chr11:46846632..46851422-chr11:46865562..46870107,6	K562	blood:
4	chr11:46844063..46849810-chr11:46866303..46869226,7	MCF-7	breast:
5	chr11:46866113..46868534-chr11:47197085..47200725,4	K562	blood:
6	chr11:46865820..46867423-chr11:46910402..46912544,2	K562	blood:
7	chr11:46258260..46260369-chr11:46866327..46868431,2	MCF-7	breast:
8	chr11:46846447..46850137-chr11:46865562..46868503,5	K562	blood:

Variant related genes	Relation type
LRP4-AS1	TF binding region
ENSG00000149182	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000134569	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10734550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10769209	1.00[AMR][1000 genomes]
rs10769215	1.00[AFR][1000 genomes]
rs1380949	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1386723	1.00[AMR][1000 genomes]
rs1585455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2035069	1.00[AFR][1000 genomes]
rs2070850	1.00[YRI][hapmap]
rs3136438	1.00[AFR][1000 genomes]
rs3136447	1.00[YRI][hapmap]
rs3136466	1.00[AFR][1000 genomes]
rs4268467	1.00[AMR][1000 genomes]
rs4417228	1.00[AMR][1000 genomes]
rs4448646	0.83[AFR][1000 genomes]
rs4472899	1.00[AMR][1000 genomes]
rs4752928	1.00[AMR][1000 genomes]
rs4752943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752945	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6485698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485701	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485707	1.00[AFR][1000 genomes]
rs7106513	1.00[AMR][1000 genomes]
rs7111229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111243	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118042	0.83[AFR][1000 genomes]
rs7119251	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119553	1.00[AMR][1000 genomes]
rs7128533	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72550707	1.00[AMR][1000 genomes]
rs72550708	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7950924	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46865800-46868400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:46865800-46868400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:46866000-46868200	Active TSS	GM12878-XiMat	blood
4	chr11:46866000-46868400	Active TSS	K562	blood
5	chr11:46866000-46868600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:46866000-46868600	Active TSS	NHDF-Ad	bronchial
7	chr11:46866200-46868400	Active TSS	HSMM	muscle
8	chr11:46866200-46868600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:46866200-46868600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:46866200-46868600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:46866200-46868600	Active TSS	HMEC	breast
12	chr11:46866200-46868600	Active TSS	NHLF	lung
13	chr11:46866200-46868800	Active TSS	Fetal Brain Female	brain
14	chr11:46866200-46868800	Active TSS	A549	lung
15	chr11:46866400-46867200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:46866400-46867200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:46866400-46867200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:46866400-46867200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:46866400-46867200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:46866400-46867400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr11:46866400-46867400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:46866400-46867400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr11:46866400-46867400	Flanking Active TSS	HUVEC	blood vessel
24	chr11:46866400-46868200	Active TSS	Muscle Satellite Cultured Cells	--
25	chr11:46866400-46868600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:46866400-46868600	Active TSS	Brain Germinal Matrix	brain
27	chr11:46866400-46868600	Active TSS	Thymus	Thymus
28	chr11:46866600-46867200	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr11:46866600-46867200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:46866600-46867200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:46866600-46867200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr11:46866600-46867200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr11:46866600-46867200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr11:46866600-46867200	Flanking Active TSS	Fetal Stomach	stomach
35	chr11:46866600-46867200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:46866600-46867200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:46866600-46867200	Flanking Active TSS	NH-A	brain
38	chr11:46866600-46867400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:46866600-46867400	Active TSS	Fetal Brain Male	brain
40	chr11:46866600-46867400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:46866600-46867400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr11:46866600-46868000	Active TSS	Hela-S3	cervix
43	chr11:46866600-46868000	Active TSS	NHEK	skin
44	chr11:46866600-46868200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr11:46866600-46868200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr11:46866600-46868400	Active TSS	H9 Cell Line	embryonic stem cell
47	chr11:46866600-46868400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:46866600-46868400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:46866600-46868400	Active TSS	Psoas Muscle	Psoas
50	chr11:46866600-46868600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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