Variant report

Variant	rs67557026
Chromosome Location	chr11:64683571-64683572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:64683557-64685214	Hela-S3	cervix:	n/a	n/a
2	ZKSCAN1	chr11:64683526-64684213	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:64683547-64684110	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr11:64683493-64686214	SK-N-SH	brain:	n/a	n/a
5	SMARCC1	chr11:64683344-64684789	Hela-S3	cervix:	n/a	n/a
6	ELF1	chr11:64683455-64684056	K562	blood:	n/a	n/a
7	CHD2	chr11:64683524-64684277	Hela-S3	cervix:	n/a	n/a
8	MAX	chr11:64683490-64684116	K562	blood:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
9	FOXP2	chr11:64683561-64684154	PFSK-1	brain:	n/a	n/a
10	RFX5	chr11:64683486-64684111	Hela-S3	cervix:	n/a	n/a
11	NR2F2	chr11:64683263-64684223	K562	blood:	n/a	n/a
12	POLR2A	chr11:64682720-64685449	Hela-S3	cervix:	n/a	n/a
13	MAX	chr11:64683433-64685238	HepG2	liver:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
14	HEY1	chr11:64683309-64685509	K562	blood:	n/a	n/a
15	GTF2F1	chr11:64683540-64684154	Hela-S3	cervix:	n/a	n/a
16	MAX	chr11:64683309-64685177	K562	blood:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
17	NFYA	chr11:64683440-64684052	Hela-S3	cervix:	n/a	n/a
18	ELF1	chr11:64683538-64684109	K562	blood:	n/a	n/a
19	NFYB	chr11:64683409-64683736	Hela-S3	cervix:	n/a	n/a
20	ATF3	chr11:64683443-64683724	K562	blood:	n/a	n/a
21	POLR2A	chr11:64683490-64684117	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:64683452-64684247	K562	blood:	n/a	n/a
23	MAX	chr11:64683523-64684147	Hela-S3	cervix:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
24	MAX	chr11:64683487-64684128	Hela-S3	cervix:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
25	ELF1	chr11:64683513-64684229	MCF-7	breast:	n/a	n/a
26	ELK4	chr11:64683549-64684150	Hela-S3	cervix:	n/a	chr11:64683850-64683861 chr11:64683930-64683939 chr11:64683931-64683939
27	CHD1	chr11:64683200-64685890	IMR90	lung:	n/a	chr11:64684690-64684700
28	HCFC1	chr11:64682583-64686155	Hela-S3	cervix:	n/a	n/a
29	ELF1	chr11:64683425-64684997	GM12878	blood:	n/a	n/a
30	SIN3AK20	chr11:64683477-64685075	K562	blood:	n/a	n/a
31	SMC3	chr11:64683489-64684083	Hela-S3	cervix:	n/a	n/a
32	SIN3AK20	chr11:64683551-64685268	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr11:64683474-64684219	GM12878	blood:	n/a	n/a
34	CEBPB	chr11:64683538-64684112	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr11:64683382-64683884	K562	blood:	n/a	n/a
36	NR2F2	chr11:64683287-64685215	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:64683371-64685040	Hela-S3	cervix:	n/a	n/a
38	NR2F2	chr11:64683378-64684107	MCF-7	breast:	n/a	n/a
39	MAX	chr11:64683571-64684271	A549	lung:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
40	SIN3A	chr11:64683484-64685248	H1-hESC	embryonic stem cell:	n/a	chr11:64683964-64683978
41	MXI1	chr11:64683562-64685895	IMR90	lung:	n/a	n/a
42	RCOR1	chr11:64683543-64684012	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:64683306-64684264	Hela-S3	cervix:	n/a	n/a
44	FOSL1	chr11:64683457-64683767	K562	blood:	n/a	chr11:64683618-64683629 chr11:64683620-64683628
45	MAZ	chr11:64683514-64684127	K562	blood:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
46	TBL1XR1	chr11:64683491-64683686	K562	blood:	n/a	n/a
47	RCOR1	chr11:64683533-64683854	K562	blood:	n/a	n/a
48	POLR2A	chr11:64683338-64684873	K562	blood:	n/a	n/a
49	MTA3	chr11:64683389-64684814	GM12878	blood:	n/a	n/a
50	MAX	chr11:64683550-64684216	MCF-7	breast:	n/a	chr11:64683992-64684008 chr11:64683765-64683775

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64683512..64686373-chr11:64701129..64703249,2	MCF-7	breast:
2	chr11:64644179..64646943-chr11:64683100..64687957,8	MCF-7	breast:
3	chr11:64683337..64686600-chr11:64690985..64694112,6	MCF-7	breast:
4	chr11:64659914..64665589-chr11:64679566..64685622,11	K562	blood:
5	chr11:64682222..64684241-chr11:64876478..64880891,3	K562	blood:
6	chr11:64644503..64648099-chr11:64683052..64686363,9	K562	blood:
7	chr11:64651561..64659485-chr11:64681552..64686807,18	K562	blood:
8	chr11:64682623..64685328-chr11:64870943..64873387,2	MCF-7	breast:
9	chr11:64681545..64685255-chr11:64700864..64703818,3	K562	blood:
10	chr11:64544525..64547813-chr11:64683284..64685866,4	K562	blood:
11	chr11:64653740..64655395-chr11:64682265..64684591,2	MCF-7	breast:
12	chr11:64681819..64686102-chr11:64779905..64782957,5	MCF-7	breast:
13	chr11:64681374..64684228-chr11:64726680..64729016,2	K562	blood:
14	chr11:64683021..64685981-chr11:64781625..64784265,4	MCF-7	breast:
15	chr11:64664073..64665620-chr11:64682984..64684733,2	MCF-7	breast:
16	chr11:64644520..64646273-chr11:64683342..64685362,3	MCF-7	breast:
17	chr11:64683299..64686210-chr11:64705910..64707683,2	K562	blood:
18	chr11:64682540..64686355-chr11:64876478..64880305,4	K562	blood:
19	chr11:64543951..64548420-chr11:64681372..64686852,8	K562	blood:
20	chr11:64682450..64685608-chr11:64808232..64811277,3	MCF-7	breast:
21	chr11:64681374..64684228-chr11:64725451..64729016,3	K562	blood:
22	chr11:64681631..64684611-chr11:64749836..64752402,2	K562	blood:
23	chr11:64683241..64683979-chr6:26216076..26217019,2	Hela-S3	cervix:
24	chr11:64682424..64684524-chr11:64927254..64929359,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPP2R5B	TF binding region
ATG2A	TF binding region
ENSG00000255058	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000203400	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000267804	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000149735	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000207648	Chromatin interaction
ENSG00000269038	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2285346	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34944753	0.90[ASN][1000 genomes]
rs35131180	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36039272	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs618006	0.95[ASN][1000 genomes]
rs658006	0.87[ASN][1000 genomes]
rs67301043	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking 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 miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS 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	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' 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 miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
10	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases
11	nsv555209	chr11:64661532-64684288	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67557026	SPDYC	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64657000-64683600	Weak transcription	Fetal Kidney	kidney
2	chr11:64679400-64683600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:64679600-64683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64681600-64683600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:64682400-64683600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:64682600-64683600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:64682600-64683600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:64682600-64683600	Enhancers	Fetal Heart	heart
9	chr11:64682600-64683800	Flanking Active TSS	Hela-S3	cervix
10	chr11:64682800-64683600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:64682800-64683600	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:64682800-64683600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:64682800-64683600	Enhancers	Brain Angular Gyrus	brain
14	chr11:64682800-64683600	Enhancers	Brain Cingulate Gyrus	brain
15	chr11:64682800-64683800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr11:64682800-64684000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:64682800-64684000	Enhancers	Small Intestine	intestine
18	chr11:64682800-64684200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:64683000-64683600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:64683000-64683600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:64683000-64683600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:64683000-64683600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr11:64683000-64683600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:64683000-64683800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:64683000-64683800	Enhancers	Spleen	Spleen
26	chr11:64683000-64684000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:64683000-64684000	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr11:64683000-64684200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:64683000-64684200	Flanking Active TSS	Placenta	Placenta
30	chr11:64683000-64684200	Flanking Active TSS	K562	blood
31	chr11:64683000-64684600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:64683200-64683600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr11:64683200-64683600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:64683200-64683600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:64683200-64683600	Enhancers	Esophagus	oesophagus
36	chr11:64683200-64683600	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:64683200-64683800	Flanking Active TSS	NHLF	lung
38	chr11:64683200-64684000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:64683200-64684000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr11:64683200-64684000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr11:64683200-64684000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:64683200-64684000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:64683200-64684000	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr11:64683200-64684000	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr11:64683200-64684000	Flanking Active TSS	HepG2	liver
46	chr11:64683200-64684200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr11:64683200-64684200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:64683200-64684200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:64683200-64684200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:64683200-64684200	Flanking Active TSS	Fetal Brain Female	brain

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