Variant report

Variant	rs17883225
Chromosome Location	chr11:75110368-75110369
allele	A/T
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	TAF1	chr11:75110286-75111216	H1-neurons	neurons:	n/a	n/a
2	SIX5	chr11:75110228-75111007	A549	lung:	n/a	chr11:75110469-75110478 chr11:75110464-75110473 chr11:75110467-75110476 chr11:75110465-75110479
3	STAT5A	chr11:75110236-75110906	K562	blood:	n/a	chr11:75110421-75110429
4	CBX3	chr11:75110137-75111208	K562	blood:	n/a	n/a
5	TCF12	chr11:75110224-75111086	ECC-1	luminal epithelium:	n/a	n/a
6	TCF7L2	chr11:75110338-75110941	HCT-116	colon:	n/a	n/a
7	MAFK	chr11:75110270-75110823	Hela-S3	cervix:	n/a	n/a
8	MYC	chr11:75110139-75111050	A549	lung:	n/a	n/a
9	SIN3A	chr11:75110324-75111927	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr11:75110333-75111458	MCF10A-Er-Src	breast:	n/a	n/a
11	PML	chr11:75110240-75111137	K562	blood:	n/a	chr11:75110964-75110972
12	TAF1	chr11:75110306-75111012	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr11:75110172-75110829	HepG2	liver:	n/a	n/a
14	PML	chr11:75110101-75111871	GM12878	blood:	n/a	chr11:75110964-75110972
15	CREB1	chr11:75110167-75111018	K562	blood:	n/a	n/a
16	TAF1	chr11:75110221-75110918	A549	lung:	n/a	n/a
17	CHD1	chr11:75109974-75112110	IMR90	lung:	n/a	n/a
18	MYC	chr11:75110270-75111287	H1-hESC	embryonic stem cell:	n/a	n/a
19	HA-E2F1	chr11:75110219-75111052	MCF-7	breast:	n/a	chr11:75110842-75110852
20	MAX	chr11:75110282-75111180	K562	blood:	n/a	n/a
21	POLR2A	chr11:75110328-75112208	GM12892	blood:	n/a	n/a
22	SIX5	chr11:75110254-75110735	H1-hESC	embryonic stem cell:	n/a	chr11:75110469-75110478 chr11:75110464-75110473 chr11:75110467-75110476 chr11:75110465-75110479
23	GABPA	chr11:75110126-75111492	MCF-7	breast:	n/a	n/a
24	YY1	chr11:75110260-75111151	GM12878	blood:	n/a	chr11:75110574-75110588 chr11:75110497-75110511 chr11:75110587-75110599 chr11:75110581-75110601
25	ELF1	chr11:75110244-75111071	A549	lung:	n/a	chr11:75110574-75110586 chr11:75110539-75110552
26	YY1	chr11:75110291-75111022	SK-N-SH_RA	brain:	n/a	chr11:75110574-75110588 chr11:75110497-75110511 chr11:75110587-75110599 chr11:75110581-75110601
27	MBD4	chr11:75110368-75111120	HepG2	liver:	n/a	n/a
28	FOXP2	chr11:75110363-75110820	PFSK-1	brain:	n/a	n/a
29	NFIC	chr11:75110283-75110865	HepG2	liver:	n/a	n/a
30	ELF1	chr11:75110266-75110845	HepG2	liver:	n/a	chr11:75110574-75110586 chr11:75110539-75110552
31	CEBPD	chr11:75110340-75110835	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:75110119-75120367	PFSK-1	brain:	n/a	n/a
33	CREB1	chr11:75110264-75110837	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:75110353-75111120	GM12878	blood:	n/a	n/a
35	YY1	chr11:75110346-75110940	K562	blood:	n/a	chr11:75110574-75110588 chr11:75110497-75110511 chr11:75110587-75110599 chr11:75110581-75110601
36	MAX	chr11:75110290-75111100	H1-hESC	embryonic stem cell:	n/a	n/a
37	SIN3AK20	chr11:75110293-75111122	A549	lung:	n/a	n/a
38	ELF1	chr11:75110077-75111131	MCF-7	breast:	n/a	chr11:75110574-75110586 chr11:75110539-75110552
39	TEAD4	chr11:75110132-75111916	K562	blood:	n/a	n/a
40	NFATC1	chr11:75110364-75110851	GM12878	blood:	n/a	n/a
41	MAFK	chr11:75110263-75110736	K562	blood:	n/a	n/a
42	CTCF	chr11:75110259-75110628	H1-hESC	embryonic stem cell:	n/a	n/a
43	EP300	chr11:75110221-75110827	A549	lung:	n/a	chr11:75110572-75110588
44	POLR2A	chr11:75110255-75120255	Hela-S3	cervix:	n/a	n/a
45	ELF1	chr11:75110197-75111020	MCF-7	breast:	n/a	chr11:75110574-75110586 chr11:75110539-75110552
46	SPI1	chr11:75110111-75110815	GM12878	blood:	n/a	n/a
47	TAF7	chr11:75110368-75110852	K562	blood:	n/a	n/a
48	POLR2A	chr11:75110199-75112429	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr11:75110365-75111073	GM15510	blood:	n/a	n/a
50	CHD2	chr11:75110292-75111011	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75109252..75112429-chr11:75150436..75153898,3	MCF-7	breast:
2	chr11:75110328..75112822-chr11:75272063..75275236,3	MCF-7	breast:
3	chr11:73681017..73683540-chr11:75108485..75110869,2	MCF-7	breast:
4	chr11:75108861..75111951-chr11:75234433..75238212,4	K562	blood:
5	chr11:75110284..75110818-chr7:139025141..139025917,2	Hela-S3	cervix:
6	chr11:75109851..75112831-chr11:75160838..75163878,3	MCF-7	breast:
7	chr11:75109346..75112415-chr11:75273833..75276890,5	K562	blood:
8	chr11:75044252..75049039-chr11:75109874..75112804,4	K562	blood:
9	chr11:75109278..75112345-chr11:75158089..75162369,4	K562	blood:
10	chr11:75061780..75064300-chr11:75109349..75111939,3	MCF-7	breast:
11	chr11:75109502..75112547-chr11:75141371..75143241,3	K562	blood:
12	chr11:75109916..75112430-chr11:75138205..75142577,6	MCF-7	breast:
13	chr11:75110197..75111022-chr9:139720670..139721654,2	Hela-S3	cervix:
14	chr11:75109502..75112547-chr11:75141371..75144789,4	K562	blood:
15	chr11:75013957..75016437-chr11:75109454..75111364,2	MCF-7	breast:
16	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
17	chr11:75110305..75110928-chr7:45026117..45026836,2	NB4	blood:
18	chr11:75109363..75113212-chr11:75271581..75274783,5	MCF-7	breast:
19	chr11:75110249..75114230-chr11:75150071..75153287,3	K562	blood:
20	chr11:75110054..75112415-chr11:75273833..75275586,2	K562	blood:
21	chr11:75108774..75112522-chr11:75157873..75162369,8	K562	blood:
22	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:
23	chr11:75017630..75020306-chr11:75109164..75110800,2	K562	blood:
24	chr11:74991337..74994595-chr11:75109481..75112048,3	MCF-7	breast:
25	chr11:75110363..75111935-chr11:75135955..75138185,2	K562	blood:

Variant related genes	Relation type
RPS3	TF binding region
SNORD15A	TF binding region
ENSG00000158555	Chromatin interaction
ENSG00000196642	Chromatin interaction
ENSG00000199090	Chromatin interaction
ENSG00000232956	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000164898	Chromatin interaction
ENSG00000137486	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000255847	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17133945	1.00[AMR][1000 genomes]
rs17880356	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75100400-75110400	Weak transcription	HSMMtube	muscle
2	chr11:75100600-75110400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:75106200-75110400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:75106600-75110400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:75106800-75110400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:75106800-75110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:75106800-75110400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:75107000-75110400	Weak transcription	Brain Substantia Nigra	brain
9	chr11:75107000-75110600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:75107200-75110400	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:75109600-75110400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:75110000-75110400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:75110000-75110400	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:75110000-75110400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:75110200-75110400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:75110200-75110400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:75110200-75110400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:75110200-75110400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:75110200-75110400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr11:75110200-75110400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:75110200-75110400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:75110200-75110400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:75110200-75110400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr11:75110200-75110400	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:75110200-75110400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:75110200-75110400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr11:75110200-75110400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr11:75110200-75110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:75110200-75110400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr11:75110200-75110400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:75110200-75110400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:75110200-75110400	Enhancers	Adipose Nuclei	Adipose
33	chr11:75110200-75110400	Enhancers	Brain Anterior Caudate	brain
34	chr11:75110200-75110400	Enhancers	Brain Germinal Matrix	brain
35	chr11:75110200-75110400	Enhancers	Colon Smooth Muscle	Colon
36	chr11:75110200-75110400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:75110200-75110400	Enhancers	Fetal Brain Male	brain
38	chr11:75110200-75110400	Enhancers	Fetal Intestine Large	intestine
39	chr11:75110200-75110400	Enhancers	Fetal Intestine Small	intestine
40	chr11:75110200-75110400	Enhancers	Fetal Muscle Leg	muscle
41	chr11:75110200-75110400	Enhancers	Placenta	Placenta
42	chr11:75110200-75110400	Enhancers	Fetal Stomach	stomach
43	chr11:75110200-75110400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:75110200-75110400	Enhancers	Spleen	Spleen
45	chr11:75110200-75110400	Flanking Active TSS	Hela-S3	cervix
46	chr11:75110200-75110400	Flanking Active TSS	HepG2	liver
47	chr11:75110200-75110400	Flanking Active TSS	HUVEC	blood vessel
48	chr11:75110200-75110400	Flanking Active TSS	K562	blood
49	chr11:75110200-75110400	Enhancers	NH-A	brain
50	chr11:75110200-75110400	Enhancers	Osteobl	bone

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