Variant report

Variant	rs1048487
Chromosome Location	chr11:9482036-9482037
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	TEAD4	chr11:9481931-9482530	A549	lung:	n/a	n/a
2	POLR2A	chr11:9480308-9483702	PFSK-1	brain:	n/a	n/a
3	GABPA	chr11:9481820-9482843	A549	lung:	n/a	n/a
4	MXI1	chr11:9481736-9483787	Hela-S3	cervix:	n/a	chr11:9481818-9481833
5	TAL1	chr11:9481931-9483851	K562	blood:	n/a	n/a
6	REST	chr11:9481845-9482312	A549	lung:	n/a	n/a
7	YY1	chr11:9481839-9482860	A549	lung:	n/a	chr11:9482220-9482242 chr11:9482686-9482700 chr11:9482769-9482783 chr11:9482689-9482703 chr11:9482671-9482680 chr11:9482689-9482698 chr11:9482534-9482548 chr11:9482686-9482695 chr11:9482672-9482686 chr11:9482231-9482239
8	MAX	chr11:9481944-9483141	K562	blood:	n/a	n/a
9	TAF1	chr11:9481378-9483190	H1-hESC	embryonic stem cell:	n/a	n/a
10	EGR1	chr11:9481962-9482742	MCF-7	breast:	n/a	chr11:9482709-9482719 chr11:9482402-9482417 chr11:9482408-9482418
11	REST	chr11:9481978-9482320	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:9480817-9484127	GM18505	blood:	n/a	n/a
13	POLR2A	chr11:9481893-9482289	HepG2	liver:	n/a	n/a
14	POU2F2	chr11:9481981-9482289	GM12878	blood:	n/a	n/a
15	CREB1	chr11:9481658-9483195	HepG2	liver:	n/a	chr11:9482392-9482405
16	CHD2	chr11:9481133-9483012	K562	blood:	n/a	chr11:9482147-9482157
17	POLR2A	chr11:9481759-9482286	A549	lung:	n/a	n/a
18	ATF3	chr11:9482007-9482651	H1-hESC	embryonic stem cell:	n/a	chr11:9482393-9482406 chr11:9482392-9482405 chr11:9482395-9482402 chr11:9482392-9482403 chr11:9482510-9482519 chr11:9482393-9482404
19	TCF12	chr11:9481756-9483231	ECC-1	luminal epithelium:	n/a	n/a
20	SP1	chr11:9481262-9483289	HCT-116	colon:	n/a	chr11:9482284-9482293 chr11:9482494-9482515 chr11:9482368-9482377 chr11:9482511-9482520 chr11:9482509-9482521 chr11:9482366-9482377 chr11:9482450-9482471 chr11:9482510-9482519 chr11:9482509-9482521
21	YY1	chr11:9481712-9483071	SK-N-SH_RA	brain:	n/a	chr11:9482220-9482242 chr11:9482686-9482700 chr11:9482769-9482783 chr11:9482689-9482703 chr11:9482671-9482680 chr11:9482689-9482698 chr11:9482534-9482548 chr11:9482686-9482695 chr11:9482672-9482686 chr11:9482231-9482239
22	POLR2A	chr11:9480875-9483890	U87	brain:	n/a	n/a
23	POLR2A	chr11:9481042-9483691	HL-60	blood:	n/a	n/a
24	IRF1	chr11:9481997-9483012	K562	blood:	n/a	chr11:9482460-9482472
25	YY1	chr11:9481637-9483140	A549	lung:	n/a	chr11:9482220-9482242 chr11:9482686-9482700 chr11:9482769-9482783 chr11:9482689-9482703 chr11:9482671-9482680 chr11:9483065-9483076 chr11:9482689-9482698 chr11:9482534-9482548 chr11:9482686-9482695 chr11:9482672-9482686 chr11:9482231-9482239
26	TEAD4	chr11:9481277-9483422	K562	blood:	n/a	n/a
27	SP1	chr11:9481651-9483453	A549	lung:	n/a	chr11:9482284-9482293 chr11:9482494-9482515 chr11:9482368-9482377 chr11:9482511-9482520 chr11:9482509-9482521 chr11:9482366-9482377 chr11:9482450-9482471 chr11:9482510-9482519 chr11:9482509-9482521
28	NFIC	chr11:9481586-9482416	ECC-1	luminal epithelium:	n/a	n/a
29	TBP	chr11:9481249-9483906	Hela-S3	cervix:	n/a	n/a
30	TAF1	chr11:9481756-9483239	ECC-1	luminal epithelium:	n/a	n/a
31	FOSL2	chr11:9481977-9482646	A549	lung:	n/a	chr11:9482476-9482487 chr11:9482394-9482403
32	POLR2A	chr11:9481690-9483171	GM12878	blood:	n/a	n/a
33	FOXM1	chr11:9481183-9483652	GM12878	blood:	n/a	n/a
34	NRF1	chr11:9481993-9483169	GM12878	blood:	n/a	n/a
35	TAF1	chr11:9481905-9482347	SK-N-SH	brain:	n/a	n/a
36	TCF7L2	chr11:9481890-9483099	HCT-116	colon:	n/a	n/a
37	FOXM1	chr11:9481865-9482990	ECC-1	luminal epithelium:	n/a	n/a
38	MYC	chr11:9481875-9482734	MCF-7	breast:	n/a	n/a
39	SP1	chr11:9481807-9482941	H1-hESC	embryonic stem cell:	n/a	chr11:9482284-9482293 chr11:9482494-9482515 chr11:9482368-9482377 chr11:9482511-9482520 chr11:9482509-9482521 chr11:9482366-9482377 chr11:9482450-9482471 chr11:9482510-9482519 chr11:9482509-9482521
40	MYC	chr11:9481846-9483177	Hela-S3	cervix:	n/a	n/a
41	ELF1	chr11:9481987-9482839	MCF-7	breast:	n/a	chr11:9482686-9482695 chr11:9482462-9482473 chr11:9482462-9482473 chr11:9482463-9482472 chr11:9482709-9482721 chr11:9482674-9482686
42	TAF1	chr11:9481727-9483142	Hela-S3	cervix:	n/a	n/a
43	TAF1	chr11:9481954-9482390	PFSK-1	brain:	n/a	n/a
44	USF1	chr11:9482030-9482702	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr11:9481141-9483836	GM18951	blood:	n/a	n/a
46	MAX	chr11:9481917-9483189	SK-N-SH	brain:	n/a	n/a
47	TAF1	chr11:9481273-9482320	SK-N-SH	brain:	n/a	n/a
48	MXI1	chr11:9481565-9483184	HepG2	liver:	n/a	chr11:9481818-9481833
49	YY1	chr11:9481937-9483145	GM12891	blood:	n/a	chr11:9482220-9482242 chr11:9482686-9482700 chr11:9482769-9482783 chr11:9482689-9482703 chr11:9482671-9482680 chr11:9483065-9483076 chr11:9482689-9482698 chr11:9482534-9482548 chr11:9482686-9482695 chr11:9482672-9482686 chr11:9482231-9482239
50	SP2	chr11:9481990-9482799	H1-hESC	embryonic stem cell:	n/a	chr11:9482362-9482377 chr11:9482479-9482502 chr11:9482452-9482462

No.	Distal block	Cell Line	Cell type
1	chr11:9481508..9485106-chr11:9595203..9601095,6	MCF-7	breast:
2	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:
3	chr11:9481580..9482474-chr17:7387306..7388177,3	Hela-S3	cervix:
4	chr11:9333668..9337804-chr11:9478729..9484496,11	K562	blood:
5	chr11:9447701..9450572-chr11:9481621..9483172,2	MCF-7	breast:
6	chr11:9444949..9446836-chr11:9480853..9482944,2	K562	blood:
7	chr11:9481791..9482882-chr7:25164334..25165288,3	Hela-S3	cervix:
8	chr11:9481080..9484532-chr11:9545856..9548015,3	MCF-7	breast:
9	chr11:9285385..9287169-chr11:9480610..9482898,2	K562	blood:
10	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
11	chr11:9481916..9482784-chr11:62608467..62609431,3	HCT-116	colon:
12	chr11:9481906..9482892-chr15:52311101..52311641,2	Hela-S3	cervix:
13	chr11:9481806..9482317-chr3:57583282..57583911,2	Hela-S3	cervix:
14	chr11:9285399..9287969-chr11:9480073..9484247,5	MCF-7	breast:
15	chr11:9481906..9482866-chr3:31574073..31574712,2	Hela-S3	cervix:
16	chr11:9481690..9482581-chr20:30194519..30195290,2	Hela-S3	cervix:
17	chr11:9481642..9483596-chr11:9779160..9782132,2	K562	blood:
18	chr11:9284942..9289829-chr11:9481407..9484206,5	MCF-7	breast:
19	chr11:9429811..9433973-chr11:9481355..9484368,4	MCF-7	breast:
20	chr11:9481490..9482152-chr11:62608638..62609549,2	NB4	blood:
21	chr11:9405101..9410331-chr11:9478772..9485340,14	K562	blood:
22	chr11:9479692..9486524-chr11:9491765..9498081,14	K562	blood:
23	chr11:9334187..9337944-chr11:9481178..9484496,6	K562	blood:
24	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
25	chr11:9403958..9411793-chr11:9477944..9485616,22	K562	blood:
26	chr11:9479980..9482925-chr11:9627285..9628824,2	MCF-7	breast:
27	chr11:9481460..9483596-chr11:9780067..9782132,2	K562	blood:
28	chr11:9481559..9482413-chr12:58165702..58166309,2	Hela-S3	cervix:
29	chr11:9481705..9482469-chr3:23987267..23987797,2	Hela-S3	cervix:
30	chr11:9285208..9288330-chr11:9480610..9483327,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM41B-5	chr11:9481103-9482245	NONHSAT017922

Variant related genes	Relation type
ZNF143	TF binding region
ENSG00000268403	TF binding region
ENSG00000181222	Chromatin interaction
ENSG00000172115	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000272146	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000163527	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000243964	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000238387	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000201998	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000246273	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000245522	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000264395	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11042379	0.86[AFR][1000 genomes]
rs12274646	0.86[AFR][1000 genomes]
rs56067293	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56080598	0.86[AFR][1000 genomes]
rs57731483	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58580896	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58602953	0.86[AFR][1000 genomes]
rs58904027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113683	0.86[AFR][1000 genomes]
rs59571955	0.86[AFR][1000 genomes]
rs73404370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404388	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404392	0.84[AFR][1000 genomes]
rs73404395	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406232	0.89[AFR][1000 genomes]
rs73406233	0.89[AFR][1000 genomes]
rs73406243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406261	0.86[AFR][1000 genomes]
rs73406268	0.86[AFR][1000 genomes]
rs73406269	0.86[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	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 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	chr11:9480600-9483800	Active TSS	Placenta	Placenta
2	chr11:9480600-9484000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr11:9480800-9482800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:9480800-9483200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:9480800-9483400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:9480800-9483400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:9480800-9483400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:9480800-9483400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:9480800-9483400	Active TSS	Brain Cingulate Gyrus	brain
10	chr11:9480800-9483400	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:9480800-9483400	Active TSS	HMEC	breast
12	chr11:9480800-9483400	Active TSS	NHEK	skin
13	chr11:9480800-9483600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:9480800-9483600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:9480800-9483600	Active TSS	Esophagus	oesophagus
16	chr11:9480800-9483600	Active TSS	Pancreas	Pancrea
17	chr11:9480800-9483800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:9480800-9483800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:9480800-9483800	Active TSS	GM12878-XiMat	blood
20	chr11:9480800-9484000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:9480800-9484000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:9480800-9484000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:9480800-9484000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:9480800-9484000	Active TSS	Fetal Brain Female	brain
25	chr11:9480800-9484000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr11:9480800-9484200	Active TSS	H1 Cell Line	embryonic stem cell
27	chr11:9480800-9484200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr11:9480800-9484200	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:9480800-9484200	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr11:9480800-9484200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:9480800-9484200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:9480800-9484200	Active TSS	HSMM	muscle
33	chr11:9481000-9482200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr11:9481000-9483000	Active TSS	Primary hematopoietic stem cells	blood
35	chr11:9481000-9483200	Active TSS	Primary T cells from cord blood	blood
36	chr11:9481000-9483200	Active TSS	NH-A	brain
37	chr11:9481000-9483400	Active TSS	Brain Angular Gyrus	brain
38	chr11:9481000-9483400	Active TSS	Brain Anterior Caudate	brain
39	chr11:9481000-9483400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:9481000-9483400	Active TSS	Fetal Kidney	kidney
41	chr11:9481000-9483400	Active TSS	Stomach Smooth Muscle	stomach
42	chr11:9481000-9483400	Active TSS	A549	lung
43	chr11:9481000-9483600	Active TSS	Liver	Liver
44	chr11:9481000-9483600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:9481000-9483600	Active TSS	Fetal Stomach	stomach
46	chr11:9481000-9483600	Active TSS	Left Ventricle	heart
47	chr11:9481000-9483600	Active TSS	NHDF-Ad	bronchial
48	chr11:9481000-9483800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr11:9481000-9483800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:9481000-9483800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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