Variant report

Variant	rs3133187
Chromosome Location	chr11:75110589-75110590
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	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	TCF7L2	chr11:75110401-75110813	PANC-1	pancreas:	n/a	n/a
4	STAT5A	chr11:75110236-75110906	K562	blood:	n/a	chr11:75110421-75110429
5	CBX3	chr11:75110137-75111208	K562	blood:	n/a	n/a
6	TCF12	chr11:75110224-75111086	ECC-1	luminal epithelium:	n/a	n/a
7	TCF7L2	chr11:75110338-75110941	HCT-116	colon:	n/a	n/a
8	POLR2A	chr11:75110397-75110902	GM10847	blood:	n/a	n/a
9	MAFK	chr11:75110270-75110823	Hela-S3	cervix:	n/a	n/a
10	MYC	chr11:75110139-75111050	A549	lung:	n/a	n/a
11	SIN3A	chr11:75110324-75111927	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZZZ3	chr11:75110527-75111744	GM12878	blood:	n/a	n/a
13	MYC	chr11:75110333-75111458	MCF10A-Er-Src	breast:	n/a	n/a
14	HEY1	chr11:75110395-75111067	HepG2	liver:	n/a	n/a
15	PML	chr11:75110240-75111137	K562	blood:	n/a	chr11:75110964-75110972
16	CTCF	chr11:75110500-75110650	HMEC	breast:	n/a	n/a
17	TAF1	chr11:75110306-75111012	SK-N-SH	brain:	n/a	n/a
18	NFIC	chr11:75110172-75110829	HepG2	liver:	n/a	n/a
19	CTCF	chr11:75110520-75110670	NHDF-neo	bronchial:	n/a	n/a
20	PML	chr11:75110101-75111871	GM12878	blood:	n/a	chr11:75110964-75110972
21	CREB1	chr11:75110167-75111018	K562	blood:	n/a	n/a
22	CREB1	chr11:75110369-75110889	A549	lung:	n/a	n/a
23	TAF1	chr11:75110221-75110918	A549	lung:	n/a	n/a
24	CHD1	chr11:75109974-75112110	IMR90	lung:	n/a	n/a
25	MYC	chr11:75110270-75111287	H1-hESC	embryonic stem cell:	n/a	n/a
26	HA-E2F1	chr11:75110219-75111052	MCF-7	breast:	n/a	chr11:75110842-75110852
27	MAX	chr11:75110282-75111180	K562	blood:	n/a	n/a
28	POLR2A	chr11:75110328-75112208	GM12892	blood:	n/a	n/a
29	TAF1	chr11:75110371-75110965	GM12891	blood:	n/a	n/a
30	SIX5	chr11:75110254-75110735	H1-hESC	embryonic stem cell:	n/a	chr11:75110469-75110478 chr11:75110464-75110473 chr11:75110467-75110476 chr11:75110465-75110479
31	YY1	chr11:75110396-75110932	K562	blood:	n/a	chr11:75110574-75110588 chr11:75110497-75110511 chr11:75110587-75110599 chr11:75110581-75110601
32	GABPA	chr11:75110126-75111492	MCF-7	breast:	n/a	n/a
33	YY1	chr11:75110260-75111151	GM12878	blood:	n/a	chr11:75110574-75110588 chr11:75110497-75110511 chr11:75110587-75110599 chr11:75110581-75110601
34	ELF1	chr11:75110244-75111071	A549	lung:	n/a	chr11:75110574-75110586 chr11:75110539-75110552
35	YY1	chr11:75110291-75111022	SK-N-SH_RA	brain:	n/a	chr11:75110574-75110588 chr11:75110497-75110511 chr11:75110587-75110599 chr11:75110581-75110601
36	MBD4	chr11:75110368-75111120	HepG2	liver:	n/a	n/a
37	FOXP2	chr11:75110363-75110820	PFSK-1	brain:	n/a	n/a
38	NFIC	chr11:75110283-75110865	HepG2	liver:	n/a	n/a
39	ELF1	chr11:75110266-75110845	HepG2	liver:	n/a	chr11:75110574-75110586 chr11:75110539-75110552
40	CEBPD	chr11:75110340-75110835	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:75110119-75120367	PFSK-1	brain:	n/a	n/a
42	YY1	chr11:75110393-75110893	GM12892	blood:	n/a	chr11:75110574-75110588 chr11:75110497-75110511 chr11:75110587-75110599 chr11:75110581-75110601
43	CREB1	chr11:75110264-75110837	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:75110353-75111120	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:75110410-75110824	HepG2	liver:	n/a	n/a
46	YY1	chr11:75110346-75110940	K562	blood:	n/a	chr11:75110574-75110588 chr11:75110497-75110511 chr11:75110587-75110599 chr11:75110581-75110601
47	MAX	chr11:75110290-75111100	H1-hESC	embryonic stem cell:	n/a	n/a
48	SIN3AK20	chr11:75110293-75111122	A549	lung:	n/a	n/a
49	ELF1	chr11:75110077-75111131	MCF-7	breast:	n/a	chr11:75110574-75110586 chr11:75110539-75110552
50	TEAD4	chr11:75110132-75111916	K562	blood:	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	chr11:75110425..75112120-chr11:75294136..75297612,3	K562	blood:
6	chr11:75110284..75110818-chr7:139025141..139025917,2	Hela-S3	cervix:
7	chr11:75109851..75112831-chr11:75160838..75163878,3	MCF-7	breast:
8	chr11:75109346..75112415-chr11:75273833..75276890,5	K562	blood:
9	chr11:75110516..75111027-chr5:40835282..40835966,2	Hela-S3	cervix:
10	chr11:75044252..75049039-chr11:75109874..75112804,4	K562	blood:
11	chr1:159894320..159894991-chr11:75110528..75111168,2	Hela-S3	cervix:
12	chr11:75110443..75111027-chr17:37895509..37896448,2	Hela-S3	cervix:
13	chr11:75109278..75112345-chr11:75158089..75162369,4	K562	blood:
14	chr11:75061780..75064300-chr11:75109349..75111939,3	MCF-7	breast:
15	chr11:75109502..75112547-chr11:75141371..75143241,3	K562	blood:
16	chr11:75109916..75112430-chr11:75138205..75142577,6	MCF-7	breast:
17	chr11:75110197..75111022-chr9:139720670..139721654,2	Hela-S3	cervix:
18	chr11:75109502..75112547-chr11:75141371..75144789,4	K562	blood:
19	chr11:75110573..75111082-chr18:12883776..12884593,2	Hela-S3	cervix:
20	chr11:75013957..75016437-chr11:75109454..75111364,2	MCF-7	breast:
21	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
22	chr11:75110305..75110928-chr7:45026117..45026836,2	NB4	blood:
23	chr11:75109363..75113212-chr11:75271581..75274783,5	MCF-7	breast:
24	chr11:75110249..75114230-chr11:75150071..75153287,3	K562	blood:
25	chr11:75110438..75111084-chr7:44084295..44085030,2	Hela-S3	cervix:
26	chr11:75110584..75111519-chr6:26250572..26251295,2	NB4	blood:
27	chr11:75110054..75112415-chr11:75273833..75275586,2	K562	blood:
28	chr11:75108774..75112522-chr11:75157873..75162369,8	K562	blood:
29	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:
30	chr11:75017630..75020306-chr11:75109164..75110800,2	K562	blood:
31	chr11:74991337..74994595-chr11:75109481..75112048,3	MCF-7	breast:
32	chr11:75110442..75111052-chr16:31470698..31471371,2	Hela-S3	cervix:
33	chr11:75061972..75065288-chr11:75110522..75113942,5	K562	blood:
34	chr11:75110363..75111935-chr11:75135955..75138185,2	K562	blood:

Variant related genes	Relation type
SNORD15B	TF binding region
RPS3	TF binding region
SNORD15A	TF binding region
ENSG00000141738	Chromatin interaction
ENSG00000158555	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000255326	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000136279	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000199090	Chromatin interaction
ENSG00000158710	Chromatin interaction
ENSG00000255847	Chromatin interaction
ENSG00000196642	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000137486	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000164898	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000232956	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11539810	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12272818	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12274033	0.90[JPT][hapmap]
rs12289289	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs12290287	0.88[JPT][hapmap]
rs12292210	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12293207	0.90[JPT][hapmap]
rs12789498	0.83[MKK][hapmap]
rs12795298	0.84[EUR][1000 genomes]
rs12798081	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3094303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3094304	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133186	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34503349	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34593568	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35378921	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75107000-75110600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:75110200-75110600	Enhancers	Liver	Liver
3	chr11:75110200-75110600	Enhancers	Rectal Smooth Muscle	rectum
4	chr11:75110200-75110600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr11:75110200-75110600	Enhancers	Stomach Mucosa	stomach
6	chr11:75110200-75110600	Flanking Active TSS	Dnd41	blood
7	chr11:75110200-75110800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:75110200-75110800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:75110200-75111200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:75110200-75111200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:75110200-75111200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:75110200-75111200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr11:75110200-75111200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:75110200-75111200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr11:75110200-75111200	Active TSS	Stomach Smooth Muscle	stomach
16	chr11:75110200-75111200	Active TSS	GM12878-XiMat	blood
17	chr11:75110200-75111400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr11:75110200-75111400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:75110200-75111400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:75110200-75112200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:75110400-75110600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr11:75110400-75110600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr11:75110400-75110600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:75110400-75110600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:75110400-75110600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:75110400-75110600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:75110400-75110600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:75110400-75110600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:75110400-75110600	Flanking Active TSS	Placenta	Placenta
30	chr11:75110400-75110800	Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr11:75110400-75110800	Active TSS	Primary hematopoietic stem cells	blood
32	chr11:75110400-75110800	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr11:75110400-75110800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr11:75110400-75110800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:75110400-75110800	Weak transcription	Fetal Brain Male	brain
36	chr11:75110400-75110800	Active TSS	Fetal Lung	lung
37	chr11:75110400-75110800	Active TSS	A549	lung
38	chr11:75110400-75110800	Active TSS	HepG2	liver
39	chr11:75110400-75110800	Active TSS	K562	blood
40	chr11:75110400-75111000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr11:75110400-75111000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr11:75110400-75111000	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr11:75110400-75111000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:75110400-75111000	Active TSS	Brain Substantia Nigra	brain
45	chr11:75110400-75111000	Active TSS	Fetal Brain Female	brain
46	chr11:75110400-75111000	Active TSS	HMEC	breast
47	chr11:75110400-75111000	Active TSS	NHEK	skin
48	chr11:75110400-75111200	Active TSS	Primary B cells from peripheral blood	blood
49	chr11:75110400-75111200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:75110400-75111200	Active TSS	Primary T helper cells PMA-I stimulated	--

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