Variant report

Variant	rs7107607
Chromosome Location	chr11:9482530-9482531
allele	C/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	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	TAF1	chr11:9482396-9483142	GM12892	blood:	n/a	n/a
6	TAL1	chr11:9481931-9483851	K562	blood:	n/a	n/a
7	GABPA	chr11:9482065-9482658	HepG2	liver:	n/a	n/a
8	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
9	MAX	chr11:9481944-9483141	K562	blood:	n/a	n/a
10	CTCF	chr11:9482440-9482590	AG04449	skin:	n/a	n/a
11	TAF1	chr11:9481378-9483190	H1-hESC	embryonic stem cell:	n/a	n/a
12	EGR1	chr11:9481962-9482742	MCF-7	breast:	n/a	chr11:9482709-9482719 chr11:9482402-9482417 chr11:9482408-9482418
13	POLR2A	chr11:9480817-9484127	GM18505	blood:	n/a	n/a
14	CREB1	chr11:9481658-9483195	HepG2	liver:	n/a	chr11:9482392-9482405
15	CHD2	chr11:9481133-9483012	K562	blood:	n/a	chr11:9482147-9482157
16	REST	chr11:9482444-9482757	H1-hESC	embryonic stem cell:	n/a	chr11:9482673-9482686
17	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
18	MAFK	chr11:9482091-9482877	IMR90	lung:	n/a	n/a
19	HEY1	chr11:9482374-9483247	HepG2	liver:	n/a	chr11:9483068-9483083 chr11:9482676-9482691 chr11:9483062-9483077 chr11:9482393-9482402 chr11:9482395-9482404
20	TCF12	chr11:9481756-9483231	ECC-1	luminal epithelium:	n/a	n/a
21	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
22	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
23	POLR2A	chr11:9480875-9483890	U87	brain:	n/a	n/a
24	POLR2A	chr11:9481042-9483691	HL-60	blood:	n/a	n/a
25	IRF1	chr11:9481997-9483012	K562	blood:	n/a	chr11:9482460-9482472
26	EP300	chr11:9482042-9482727	ECC-1	luminal epithelium:	n/a	chr11:9482683-9482699 chr11:9482541-9482557 chr11:9482483-9482491
27	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
28	TEAD4	chr11:9481277-9483422	K562	blood:	n/a	n/a
29	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
30	CTCF	chr11:9482500-9482650	HMEC	breast:	n/a	n/a
31	TBP	chr11:9481249-9483906	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr11:9481756-9483239	ECC-1	luminal epithelium:	n/a	n/a
33	FOSL2	chr11:9481977-9482646	A549	lung:	n/a	chr11:9482476-9482487 chr11:9482394-9482403
34	POLR2A	chr11:9481690-9483171	GM12878	blood:	n/a	n/a
35	FOXM1	chr11:9481183-9483652	GM12878	blood:	n/a	n/a
36	NRF1	chr11:9481993-9483169	GM12878	blood:	n/a	n/a
37	CTCF	chr11:9482186-9482721	GM12878	blood:	n/a	chr11:9482238-9482251 chr11:9482238-9482251
38	TCF7L2	chr11:9481890-9483099	HCT-116	colon:	n/a	n/a
39	FOXM1	chr11:9481865-9482990	ECC-1	luminal epithelium:	n/a	n/a
40	MYC	chr11:9481875-9482734	MCF-7	breast:	n/a	n/a
41	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
42	TAF1	chr11:9482384-9483216	SK-N-SH	brain:	n/a	n/a
43	PAX5	chr11:9482045-9483154	GM12892	blood:	n/a	chr11:9482383-9482401 chr11:9483071-9483080
44	MYC	chr11:9481846-9483177	Hela-S3	cervix:	n/a	n/a
45	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
46	TAF1	chr11:9481727-9483142	Hela-S3	cervix:	n/a	n/a
47	USF1	chr11:9482030-9482702	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr11:9481141-9483836	GM18951	blood:	n/a	n/a
49	MAX	chr11:9481917-9483189	SK-N-SH	brain:	n/a	n/a
50	MXI1	chr11:9481565-9483184	HepG2	liver:	n/a	chr11:9481818-9481833

No.	Distal block	Cell Line	Cell type
1	chr11:9482492..9483098-chr6:106773115..106773897,2	Hela-S3	cervix:
2	chr11:9481508..9485106-chr11:9595203..9601095,6	MCF-7	breast:
3	chr11:9227494..9229881-chr11:9482227..9483923,2	K562	blood:
4	chr11:2950215..2951041-chr11:9482375..9483022,3	Hela-S3	cervix:
5	chr11:9482357..9483148-chr20:34251685..34252572,2	Hela-S3	cervix:
6	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:
7	chr11:9482080..9482956-chr16:54962867..54963680,2	Hela-S3	cervix:
8	chr11:9333668..9337804-chr11:9478729..9484496,11	K562	blood:
9	chr11:9447701..9450572-chr11:9481621..9483172,2	MCF-7	breast:
10	chr11:9444949..9446836-chr11:9480853..9482944,2	K562	blood:
11	chr1:110950060..110950923-chr11:9482429..9483148,2	Hela-S3	cervix:
12	chr11:9482206..9482747-chr2:157198469..157199110,2	Hela-S3	cervix:
13	chr11:9481791..9482882-chr7:25164334..25165288,3	Hela-S3	cervix:
14	chr11:9482051..9482929-chr5:61699444..61700280,2	Hela-S3	cervix:
15	chr1:16840285..16841093-chr11:9482186..9482881,2	NB4	blood:
16	chr1:109289017..109289537-chr11:9482162..9482801,2	Hela-S3	cervix:
17	chr11:9482444..9482988-chr9:131873221..131874062,2	Hela-S3	cervix:
18	chr11:9481080..9484532-chr11:9545856..9548015,3	MCF-7	breast:
19	chr11:9482250..9482926-chr20:30160552..30161229,2	Hela-S3	cervix:
20	chr11:9482310..9483015-chr11:9594999..9595996,2	Hela-S3	cervix:
21	chr11:9285385..9287169-chr11:9480610..9482898,2	K562	blood:
22	chr11:9482102..9482787-chr7:150075710..150076563,2	Hela-S3	cervix:
23	chr11:9482455..9483117-chr5:137673639..137674568,2	Hela-S3	cervix:
24	chr11:9335238..9336588-chr11:9482149..9483111,3	Hela-S3	cervix:
25	chr11:9482245..9482827-chr2:32581425..32582353,2	Hela-S3	cervix:
26	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
27	chr11:9482316..9483086-chr2:70417442..70418160,3	Hela-S3	cervix:
28	chr11:9482461..9483063-chr22:39915612..39916176,2	HCT-116	colon:
29	chr11:9482300..9482841-chr11:62369140..62369848,2	Hela-S3	cervix:
30	chr11:9481916..9482784-chr11:62608467..62609431,3	HCT-116	colon:
31	chr11:9481906..9482892-chr15:52311101..52311641,2	Hela-S3	cervix:
32	chr1:27226458..27227422-chr11:9482505..9483172,2	Hela-S3	cervix:
33	chr11:9285399..9287969-chr11:9480073..9484247,5	MCF-7	breast:
34	chr11:9481906..9482866-chr3:31574073..31574712,2	Hela-S3	cervix:
35	chr11:9481690..9482581-chr20:30194519..30195290,2	Hela-S3	cervix:
36	chr11:9481642..9483596-chr11:9779160..9782132,2	K562	blood:
37	chr11:9284942..9289829-chr11:9481407..9484206,5	MCF-7	breast:
38	chr11:9429811..9433973-chr11:9481355..9484368,4	MCF-7	breast:
39	chr11:9482164..9483690-chr11:9598599..9601195,2	MCF-7	breast:
40	chr11:9405101..9410331-chr11:9478772..9485340,14	K562	blood:
41	chr11:9479692..9486524-chr11:9491765..9498081,14	K562	blood:
42	chr11:9334187..9337944-chr11:9481178..9484496,6	K562	blood:
43	chr11:9482149..9483329-chr5:137878827..137879438,3	Hela-S3	cervix:
44	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
45	chr11:9403958..9411793-chr11:9477944..9485616,22	K562	blood:
46	chr11:9482397..9483150-chr2:220042063..220042673,2	HCT-116	colon:
47	chr11:9479980..9482925-chr11:9627285..9628824,2	MCF-7	breast:
48	chr11:9482319..9482905-chr2:101618429..101619184,2	Hela-S3	cervix:
49	chr11:9481460..9483596-chr11:9780067..9782132,2	K562	blood:
50	chr11:9482431..9482959-chr17:79995207..79995962,2	Hela-S3	cervix:

Variant related genes	Relation type
ZNF143	TF binding region
ENSG00000268403	TF binding region
ENSG00000172115	Chromatin interaction
ENSG00000086200	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000267100	Chromatin interaction
ENSG00000246273	Chromatin interaction
ENSG00000116266	Chromatin interaction
ENSG00000115998	Chromatin interaction
ENSG00000223947	Chromatin interaction
ENSG00000144567	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000086189	Chromatin interaction
ENSG00000196262	Chromatin interaction
ENSG00000238387	Chromatin interaction
ENSG00000090273	Chromatin interaction
ENSG00000120705	Chromatin interaction
ENSG00000095321	Chromatin interaction
ENSG00000119383	Chromatin interaction
ENSG00000128272	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000181649	Chromatin interaction
ENSG00000245694	Chromatin interaction
ENSG00000134248	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000057663	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000214078	Chromatin interaction
ENSG00000071082	Chromatin interaction
ENSG00000201998	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000115760	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000153234	Chromatin interaction
ENSG00000264569	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000120709	Chromatin interaction
ENSG00000158402	Chromatin interaction
ENSG00000243964	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000198746	Chromatin interaction
ENSG00000245522	Chromatin interaction
ENSG00000169738	Chromatin interaction
ENSG00000230613	Chromatin interaction
ENSG00000163527	Chromatin interaction
ENSG00000224699	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11823865	1.00[EUR][1000 genomes]
rs11824009	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1865560	1.00[EUR][1000 genomes]
rs34831554	1.00[EUR][1000 genomes]
rs4328248	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4414214	1.00[AMR][1000 genomes]
rs4910057	1.00[EUR][1000 genomes]
rs57760683	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58608279	1.00[EUR][1000 genomes]
rs59206639	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59403069	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59432040	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60199973	1.00[EUR][1000 genomes]
rs60748041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61003414	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61708669	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7113100	1.00[EUR][1000 genomes]
rs7115224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119701	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408245	1.00[EUR][1000 genomes]
rs73408270	1.00[EUR][1000 genomes]
rs73408291	1.00[EUR][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	chr11:9481000-9483000	Active TSS	Primary hematopoietic stem cells	blood
34	chr11:9481000-9483200	Active TSS	Primary T cells from cord blood	blood
35	chr11:9481000-9483200	Active TSS	NH-A	brain
36	chr11:9481000-9483400	Active TSS	Brain Angular Gyrus	brain
37	chr11:9481000-9483400	Active TSS	Brain Anterior Caudate	brain
38	chr11:9481000-9483400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:9481000-9483400	Active TSS	Fetal Kidney	kidney
40	chr11:9481000-9483400	Active TSS	Stomach Smooth Muscle	stomach
41	chr11:9481000-9483400	Active TSS	A549	lung
42	chr11:9481000-9483600	Active TSS	Liver	Liver
43	chr11:9481000-9483600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr11:9481000-9483600	Active TSS	Fetal Stomach	stomach
45	chr11:9481000-9483600	Active TSS	Left Ventricle	heart
46	chr11:9481000-9483600	Active TSS	NHDF-Ad	bronchial
47	chr11:9481000-9483800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr11:9481000-9483800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:9481000-9483800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:9481000-9483800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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