Variant report

Variant	rs7933674
Chromosome Location	chr11:47586968-47586969
allele	A/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	ETS1	chr11:47586736-47587449	K562	blood:	n/a	n/a
2	POLR2A	chr11:47586775-47587358	HCT-116	colon:	n/a	n/a
3	MAX	chr11:47586632-47587381	HCT-116	colon:	n/a	chr11:47586731-47586741 chr11:47586872-47586882 chr11:47586839-47586849
4	TCF3	chr11:47586927-47587286	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:47586822-47587508	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:47586859-47587388	GM12878	blood:	n/a	n/a
7	EGR1	chr11:47586900-47587245	K562	blood:	n/a	n/a
8	POLR2A	chr11:47586762-47587624	K562	blood:	n/a	n/a
9	POU2F2	chr11:47586828-47587366	GM12891	blood:	n/a	chr11:47587093-47587105 chr11:47587096-47587108
10	HEY1	chr11:47586749-47587369	HepG2	liver:	n/a	chr11:47586907-47586916 chr11:47587090-47587105
11	PAX5	chr11:47586890-47587170	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:47586767-47587581	GM12892	blood:	n/a	n/a
13	HA-E2F1	chr11:47586643-47588077	MCF-7	breast:	n/a	chr11:47586954-47586961 chr11:47586698-47586706 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586697-47586707 chr11:47586949-47586964 chr11:47587573-47587582 chr11:47586698-47586705 chr11:47586698-47586706
14	TAF7	chr11:47586748-47587405	H1-hESC	embryonic stem cell:	n/a	n/a
15	BHLHE40	chr11:47586881-47587297	HepG2	liver:	n/a	chr11:47587078-47587094
16	CHD2	chr11:47586679-47587359	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr11:47586824-47587542	A549	lung:	n/a	n/a
18	ZBTB33	chr11:47586883-47587248	HepG2	liver:	n/a	chr11:47587057-47587072
19	CCNT2	chr11:47586875-47587565	K562	blood:	n/a	n/a
20	RFX5	chr11:47586938-47587226	Hela-S3	cervix:	n/a	n/a
21	E2F6	chr11:47586646-47587763	Hela-S3	cervix:	n/a	chr11:47586954-47586961 chr11:47586698-47586706 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586697-47586707 chr11:47586952-47586963 chr11:47586949-47586964 chr11:47587573-47587582 chr11:47586698-47586705 chr11:47586698-47586706
22	POLR2A	chr11:47586634-47587590	HUVEC	blood vessel:	n/a	n/a
23	ZBTB7A	chr11:47586525-47587753	K562	blood:	n/a	chr11:47587567-47587575
24	JUND	chr11:47586879-47587301	K562	blood:	n/a	n/a
25	POLR2A	chr11:47586719-47587488	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr11:47586861-47587688	HCT-116	colon:	n/a	n/a
27	POLR2A	chr11:47586713-47587595	ProgFib	skin:	n/a	n/a
28	HA-E2F1	chr11:47586750-47587889	Hela-S3	cervix:	n/a	chr11:47586954-47586961 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586949-47586964 chr11:47587573-47587582
29	NR2F2	chr11:47586642-47588150	K562	blood:	n/a	n/a
30	CHD2	chr11:47586608-47587617	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:47586755-47587329	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr11:47586799-47587474	K562	blood:	n/a	n/a
33	PML	chr11:47586739-47587512	GM12878	blood:	n/a	n/a
34	BRCA1	chr11:47586887-47587357	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr11:47586366-47587741	IMR90	lung:	n/a	n/a
36	TAF1	chr11:47586775-47587781	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr11:47586827-47587643	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr11:47586794-47587517	A549	lung:	n/a	n/a
39	POLR2A	chr11:47586746-47587506	GM12891	blood:	n/a	n/a
40	TAF1	chr11:47586815-47587413	GM12878	blood:	n/a	n/a
41	E2F6	chr11:47586607-47587330	H1-hESC	embryonic stem cell:	n/a	chr11:47586954-47586961 chr11:47586698-47586706 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586697-47586707 chr11:47586952-47586963 chr11:47586949-47586964 chr11:47586698-47586705 chr11:47586698-47586706
42	HEY1	chr11:47586753-47587424	K562	blood:	n/a	chr11:47586907-47586916 chr11:47587090-47587105
43	POLR2A	chr11:47586873-47587681	MCF10A-Er-Src	breast:	n/a	n/a
44	MAX	chr11:47586574-47587399	MCF-7	breast:	n/a	chr11:47586731-47586741 chr11:47586872-47586882 chr11:47586839-47586849
45	POLR2A	chr11:47586760-47587410	K562	blood:	n/a	n/a
46	RCOR1	chr11:47586923-47588028	Hela-S3	cervix:	n/a	n/a
47	YY1	chr11:47586868-47587551	GM12878	blood:	n/a	n/a
48	ELF1	chr11:47586806-47587439	GM12878	blood:	n/a	chr11:47586863-47586875
49	HNF4A	chr11:47586869-47587263	HepG2	liver:	n/a	n/a
50	MAX	chr11:47586585-47587768	A549	lung:	n/a	chr11:47586731-47586741 chr11:47586872-47586882 chr11:47586839-47586849

No.	Distal block	Cell Line	Cell type
1	chr11:47535507..47539459-chr11:47585714..47589149,4	MCF-7	breast:
2	chr11:47545148..47547980-chr11:47586701..47589133,2	MCF-7	breast:
3	chr11:47586403..47589804-chr11:47615450..47617603,3	MCF-7	breast:
4	chr11:47585806..47587545-chr6:74230961..74233222,2	K562	blood:
5	chr11:47571371..47576564-chr11:47585605..47588889,10	MCF-7	breast:
6	chr11:47586161..47588765-chr11:47660200..47662976,2	MCF-7	breast:
7	chr11:47416151..47418895-chr11:47586699..47588478,2	MCF-7	breast:
8	chr11:47515223..47517618-chr11:47586025..47588780,2	K562	blood:
9	chr11:47586895..47590126-chr11:47609798..47613644,4	MCF-7	breast:
10	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
11	chr11:47571923..47578059-chr11:47583779..47591283,17	MCF-7	breast:
12	chr11:47578751..47581226-chr11:47586015..47587663,2	K562	blood:
13	chr11:47586839..47587661-chr11:64863640..64864615,2	Hela-S3	cervix:
14	chr11:47429691..47431699-chr11:47584830..47587245,2	MCF-7	breast:

Variant related genes	Relation type
PTPMT1	TF binding region
ENSG00000156508	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000265559	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000270072	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000172247	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000200376	Chromatin interaction
ENSG00000255197	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10160313	1.00[AFR][1000 genomes]
rs1040199	1.00[AFR][1000 genomes]
rs10769273	1.00[AFR][1000 genomes]
rs2045614	1.00[ASN][1000 genomes]
rs2233358	1.00[AFR][1000 genomes]
rs35920762	1.00[AFR][1000 genomes]
rs4498952	1.00[ASN][1000 genomes]
rs6485757	1.00[AFR][1000 genomes]
rs7116487	1.00[AFR][1000 genomes]
rs7118918	1.00[AFR][1000 genomes]
rs7121406	0.83[AFR][1000 genomes]
rs7932169	1.00[AFR][1000 genomes]
rs7940413	1.00[AFR][1000 genomes]
rs9666418	1.00[AFR][1000 genomes]
rs967829	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47586000-47587000	Flanking Active TSS	Hela-S3	cervix
2	chr11:47586200-47587000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr11:47586200-47587000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:47586200-47587000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:47586200-47587000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:47586200-47587000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr11:47586200-47587000	Flanking Active TSS	Dnd41	blood
8	chr11:47586200-47587600	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:47586200-47588200	Active TSS	GM12878-XiMat	blood
10	chr11:47586200-47588400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:47586400-47587000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:47586400-47587000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:47586400-47587000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:47586400-47587000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr11:47586400-47587000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr11:47586400-47587000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr11:47586400-47587000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr11:47586400-47587000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr11:47586400-47587000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr11:47586400-47587000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:47586400-47587000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:47586400-47587000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:47586400-47587000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:47586400-47587000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:47586400-47587000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr11:47586400-47587000	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr11:47586400-47587000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr11:47586400-47587000	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr11:47586400-47587000	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr11:47586400-47587000	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr11:47586400-47587000	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr11:47586400-47587000	Flanking Active TSS	Placenta	Placenta
33	chr11:47586400-47587000	Flanking Active TSS	Fetal Stomach	stomach
34	chr11:47586400-47587000	Flanking Active TSS	Fetal Thymus	thymus
35	chr11:47586400-47587000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
36	chr11:47586400-47587000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:47586400-47587000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:47586400-47587000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr11:47586400-47587000	Flanking Active TSS	HMEC	breast
40	chr11:47586400-47587000	Flanking Active TSS	HSMMtube	muscle
41	chr11:47586400-47587000	Flanking Active TSS	HUVEC	blood vessel
42	chr11:47586400-47587000	Flanking Active TSS	K562	blood
43	chr11:47586400-47587000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:47586400-47587000	Flanking Active TSS	NH-A	brain
45	chr11:47586400-47587000	Flanking Active TSS	NHDF-Ad	bronchial
46	chr11:47586400-47587000	Flanking Active TSS	NHEK	skin
47	chr11:47586400-47587200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:47586400-47587800	Active TSS	Psoas Muscle	Psoas
49	chr11:47586400-47588000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr11:47586400-47588000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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