Variant report

Variant	rs527804025
Chromosome Location	chr11:120174172-120174173
allele	A/C
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	CTCF	chr11:120174040-120174190	A549	lung:	n/a	n/a
2	CTCF	chr11:120174145-120174266	GM20000	blood:	n/a	n/a
3	RAD21	chr11:120173695-120174177	H1-hESC	embryonic stem cell:	n/a	chr11:120173916-120173923 chr11:120173959-120173973 chr11:120173955-120173974 chr11:120173972-120173985 chr11:120173906-120173925
4	CTCF	chr11:120173583-120174400	A549	lung:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
5	CTCF	chr11:120173599-120174248	K562	blood:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
6	FOXM1	chr11:120173677-120174179	GM12878	blood:	n/a	n/a
7	CTCF	chr11:120173638-120174183	H1-hESC	embryonic stem cell:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
8	CTCF	chr11:120173671-120174191	K562	blood:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
9	RAD21	chr11:120173675-120174239	A549	lung:	n/a	chr11:120173916-120173923 chr11:120173959-120173973 chr11:120173955-120173974 chr11:120173972-120173985 chr11:120173906-120173925
10	CTCF	chr11:120173454-120174368	SK-N-SH	brain:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
11	RAD21	chr11:120173668-120174172	H1-hESC	embryonic stem cell:	n/a	chr11:120173916-120173923 chr11:120173959-120173973 chr11:120173955-120173974 chr11:120173972-120173985 chr11:120173906-120173925
12	CTCF	chr11:120173425-120174448	HCT-116	colon:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
13	CTCF	chr11:120173137-120174649	HCT-116	colon:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
14	CTCF	chr11:120173584-120174194	GM12878	blood:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
15	RAD21	chr11:120173542-120174247	HCT-116	colon:	n/a	chr11:120173916-120173923 chr11:120173959-120173973 chr11:120173955-120173974 chr11:120173972-120173985 chr11:120173906-120173925
16	GATA3	chr11:120173644-120174217	MCF-7	breast:	n/a	chr11:120174045-120174061 chr11:120174042-120174063
17	RAD21	chr11:120173388-120174306	HCT-116	colon:	n/a	chr11:120173916-120173923 chr11:120173959-120173973 chr11:120173955-120173974 chr11:120173972-120173985 chr11:120173906-120173925
18	RAD21	chr11:120173615-120174193	MCF-7	breast:	n/a	chr11:120173916-120173923 chr11:120173959-120173973 chr11:120173955-120173974 chr11:120173972-120173985 chr11:120173906-120173925
19	SMC3	chr11:120173619-120174255	GM12878	blood:	n/a	chr11:120173959-120173973 chr11:120173910-120173924
20	CTCF	chr11:120173692-120174315	HepG2	liver:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
21	CTCF	chr11:120173578-120174319	MCF-7	breast:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
22	RAD21	chr11:120173652-120174309	SK-N-SH	brain:	n/a	chr11:120173916-120173923 chr11:120173959-120173973 chr11:120173955-120173974 chr11:120173972-120173985 chr11:120173906-120173925
23	CTCF	chr11:120173670-120174325	K562	blood:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
24	RAD21	chr11:120173458-120174177	ECC-1	luminal epithelium:	n/a	chr11:120173916-120173923 chr11:120173959-120173973 chr11:120173955-120173974 chr11:120173972-120173985 chr11:120173906-120173925
25	CTCF	chr11:120173601-120174200	MCF-7	breast:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
26	SMC3	chr11:120173624-120174519	SK-N-SH	brain:	n/a	chr11:120173959-120173973 chr11:120173910-120173924
27	CTCF	chr11:120173711-120174200	K562	blood:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
28	CTCF	chr11:120173675-120174208	T-47D	breast:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
29	CTCF	chr11:120174158-120174265	GM10266	blood:	n/a	n/a
30	CTCF	chr11:120174100-120174250	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120173450..120174289-chr11:120195532..120196408,2	MCF-7	breast:
2	chr11:120128846..120129977-chr11:120173377..120174320,3	K562	blood:
3	chr11:120171583..120174537-chr11:120174642..120177317,2	MCF-7	breast:
4	chr11:120172949..120175534-chr2:55468115..55470994,2	MCF-7	breast:
5	chr11:120172975..120174511-chr11:120180188..120181790,2	MCF-7	breast:
6	chr11:120110739..120111690-chr11:120173720..120174499,2	MCF-7	breast:
7	chr11:119986921..119988576-chr11:120173602..120175252,2	MCF-7	breast:
8	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
9	chr11:120042598..120043820-chr11:120173442..120174406,6	K562	blood:
10	chr11:120099434..120101938-chr11:120172403..120174898,2	K562	blood:
11	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
12	chr11:120099468..120100385-chr11:120173694..120174331,2	MCF-7	breast:
13	chr11:120105406..120106378-chr11:120172236..120174440,21	K562	blood:
14	chr11:120173473..120178843-chr11:120183667..120189130,9	MCF-7	breast:
15	chr11:120172447..120175021-chr11:120193864..120196695,3	MCF-7	breast:
16	chr11:120042631..120043429-chr11:120173449..120174511,3	MCF-7	breast:
17	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
18	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
19	chr11:120105456..120106436-chr11:120173320..120174423,6	MCF-7	breast:
20	chr11:120109877..120110557-chr11:120173590..120174191,2	K562	blood:
21	chr11:120173019..120175401-chr11:120178309..120180098,2	MCF-7	breast:
22	chr11:120105294..120106722-chr11:120173447..120174421,11	MCF-7	breast:

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000181264	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv522706	chr11:120173845-120178632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120169600-120178200	Enhancers	Placenta	Placenta
2	chr11:120170800-120174600	Weak transcription	HMEC	breast
3	chr11:120170800-120174800	Weak transcription	Hela-S3	cervix
4	chr11:120170800-120175200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:120170800-120175200	Weak transcription	Small Intestine	intestine
6	chr11:120170800-120175800	Weak transcription	A549	lung
7	chr11:120170800-120176200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:120170800-120176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:120171200-120175400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:120172000-120177600	Enhancers	Stomach Mucosa	stomach
11	chr11:120172200-120174200	Enhancers	Esophagus	oesophagus
12	chr11:120172200-120177600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr11:120172400-120178200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:120173000-120175400	Enhancers	NHEK	skin
15	chr11:120173200-120174400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:120173200-120176800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:120173200-120181200	Weak transcription	Fetal Intestine Large	intestine
18	chr11:120173400-120175200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:120173400-120176200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:120173400-120177000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:120173600-120174200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr11:120173800-120174400	Weak transcription	GM12878-XiMat	blood
23	chr11:120173800-120175000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:120173800-120175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:120173800-120175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:120173800-120175800	Weak transcription	Gastric	stomach
27	chr11:120173800-120175800	Weak transcription	Pancreas	Pancrea
28	chr11:120173800-120177800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:120173800-120177800	Weak transcription	Lung	lung
30	chr11:120173800-120181200	Weak transcription	Fetal Intestine Small	intestine
31	chr11:120174000-120174200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:120174000-120175800	Weak transcription	Colonic Mucosa	Colon
33	chr11:120174000-120175800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:120174000-120175800	Weak transcription	Rectal Mucosa Donor 29	rectum

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