Variant report

Variant	rs7118697
Chromosome Location	chr11:72142070-72142071
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	FOXA1	chr11:72142037-72142524	HepG2	liver:	n/a	chr11:72142249-72142264
2	CTCF	chr11:72142000-72142150	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr11:72141938-72142526	MCF-7	breast:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
4	CHD2	chr11:72142025-72142346	GM12878	blood:	n/a	n/a
5	RAD21	chr11:72142035-72142362	K562	blood:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
6	CTCF	chr11:72142007-72142279	SK-N-SH_RA	brain:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
7	SIN3AK20	chr11:72142036-72142422	SK-N-SH	brain:	n/a	n/a
8	RUNX3	chr11:72141790-72142376	GM12878	blood:	n/a	n/a
9	RAD21	chr11:72141926-72142444	ECC-1	luminal epithelium:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
10	MAZ	chr11:72142034-72142233	GM12878	blood:	n/a	n/a
11	CTCF	chr11:72142011-72142350	ECC-1	luminal epithelium:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
12	RAD21	chr11:72141985-72142412	Hela-S3	cervix:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
13	KAP1	chr11:72141925-72142494	HEK293	kidney:	n/a	n/a
14	CTCF	chr11:72142067-72142344	K562	blood:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
15	CTCF	chr11:72142048-72142353	GM12891	blood:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
16	CTCF	chr11:72141805-72142547	HCT-116	colon:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
17	MAX	chr11:72141957-72142330	K562	blood:	n/a	n/a
18	RAD21	chr11:72141912-72142450	H1-hESC	embryonic stem cell:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
19	CTCF	chr11:72142069-72142327	A549	lung:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
20	CTCF	chr11:72141984-72142424	GM12878	blood:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
21	IRF1	chr11:72142052-72142327	K562	blood:	n/a	n/a
22	CTCF	chr11:72142055-72142348	GM12892	blood:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
23	CTCF	chr11:72141971-72142438	T-47D	breast:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
24	RAD21	chr11:72141868-72142430	H1-hESC	embryonic stem cell:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
25	FOXM1	chr11:72141932-72142440	GM12878	blood:	n/a	n/a
26	RAD21	chr11:72142018-72142374	A549	lung:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
27	FOXA2	chr11:72141985-72142541	A549	lung:	n/a	n/a
28	ZNF143	chr11:72142028-72142381	K562	blood:	n/a	n/a
29	MAFF	chr11:72142016-72142364	HepG2	liver:	n/a	n/a
30	CTCF	chr11:72141940-72142090	Hela-S3	cervix:	n/a	n/a
31	MAX	chr11:72142037-72142189	HepG2	liver:	n/a	n/a
32	SMC3	chr11:72142009-72142405	Hela-S3	cervix:	n/a	chr11:72142202-72142216
33	JUND	chr11:72142049-72142335	H1-hESC	embryonic stem cell:	n/a	chr11:72142232-72142242 chr11:72142232-72142242 chr11:72142232-72142242
34	CTCF	chr11:72142001-72142355	K562	blood:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
35	CTCF	chr11:72141900-72142485	MCF-7	breast:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
36	CTCF	chr11:72142058-72142311	NHEK	skin:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
37	MAFK	chr11:72142061-72142396	K562	blood:	n/a	chr11:72142233-72142243
38	JUND	chr11:72142018-72142348	K562	blood:	n/a	chr11:72142232-72142242 chr11:72142232-72142242 chr11:72142232-72142242
39	USF1	chr11:72141794-72142198	K562	blood:	n/a	n/a
40	CTCF	chr11:72142059-72142352	MCF-7	breast:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
41	BHLHE40	chr11:72141895-72142230	K562	blood:	n/a	n/a
42	FOXA1	chr11:72141995-72142451	T-47D	breast:	n/a	chr11:72142249-72142264
43	RAD21	chr11:72141981-72142425	HepG2	liver:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
44	SMC3	chr11:72142001-72142373	K562	blood:	n/a	chr11:72142202-72142216
45	FOXA1	chr11:72142020-72142460	HepG2	liver:	n/a	chr11:72142249-72142264
46	RAD21	chr11:72141915-72142353	HepG2	liver:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
47	USF1	chr11:72141842-72142090	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr11:72142049-72142385	GM19238	blood:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
49	RAD21	chr11:72141951-72142482	HepG2	liver:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
50	RAD21	chr11:72141838-72142463	IMR90	lung:	n/a	chr11:72142198-72142217 chr11:72142202-72142216

No.	Distal block	Cell Line	Cell type
1	chr11:72065382..72066006-chr11:72141919..72142663,2	MCF-7	breast:
2	chr11:72064135..72065084-chr11:72141889..72142684,2	K562	blood:
3	chr11:72063923..72064597-chr11:72141783..72142520,2	MCF-7	breast:
4	chr11:71802429..71803055-chr11:72141805..72142468,2	MCF-7	breast:
5	chr11:71932379..71935171-chr11:72141438..72143643,2	K562	blood:
6	chr11:72141748..72142617-chr11:72158017..72158572,2	MCF-7	breast:
7	chr11:71802072..71802706-chr11:72141920..72142483,2	MCF-7	breast:
8	chr11:72059204..72059745-chr11:72141792..72142640,3	MCF-7	breast:
9	chr11:71947842..71948409-chr11:72141968..72142639,2	MCF-7	breast:

Variant related genes	Relation type
CLPB	TF binding region
ENSG00000255672	Chromatin interaction
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11235499	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1160142	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs11821309	0.93[ASN][1000 genomes]
rs11826227	0.88[YRI][hapmap]
rs11828128	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.88[YRI][hapmap];0.93[ASN][1000 genomes]
rs12295464	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17160018	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17162146	0.88[YRI][hapmap]
rs17162150	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864322	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];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741162	0.88[YRI][hapmap]
rs57380316	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57402767	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58058345	0.95[EUR][1000 genomes]
rs58515298	0.95[EUR][1000 genomes]
rs58571741	0.95[EUR][1000 genomes]
rs7107422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109307	0.95[EUR][1000 genomes]
rs7109466	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7111173	0.85[EUR][1000 genomes]
rs7118089	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120137	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];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927430	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7938979	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7940087	0.82[EUR][1000 genomes]
rs7947482	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];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950298	0.82[CEU][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72125800-72144800	Weak transcription	Fetal Kidney	kidney
2	chr11:72129400-72144800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:72129400-72145000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:72132600-72144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:72132600-72144800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:72132800-72144800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:72133800-72145200	Weak transcription	Small Intestine	intestine
8	chr11:72135600-72144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:72136000-72143200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:72136200-72142800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:72136400-72142200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:72136400-72144200	Weak transcription	Fetal Heart	heart
13	chr11:72136600-72142200	Strong transcription	Fetal Intestine Small	intestine
14	chr11:72136800-72144800	Weak transcription	Right Atrium	heart
15	chr11:72137400-72144800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:72137600-72142200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:72137600-72143800	Weak transcription	Psoas Muscle	Psoas
18	chr11:72137600-72144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:72138000-72142200	Strong transcription	NHEK	skin
20	chr11:72138000-72144800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:72138800-72143600	Weak transcription	Fetal Lung	lung
22	chr11:72139000-72142200	Weak transcription	Fetal Brain Male	brain
23	chr11:72139200-72142200	Strong transcription	HUVEC	blood vessel
24	chr11:72139400-72144600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:72140000-72144800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:72140000-72144800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:72140200-72144000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:72140200-72144800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:72140200-72144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:72140200-72144800	Weak transcription	Colonic Mucosa	Colon
31	chr11:72140400-72144800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:72140600-72144800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:72140800-72144800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:72141000-72144800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:72141000-72144800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr11:72141200-72144000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:72141200-72144600	Weak transcription	A549	lung
38	chr11:72141200-72144800	Weak transcription	Left Ventricle	heart
39	chr11:72141200-72145000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:72141400-72143600	Weak transcription	Gastric	stomach
41	chr11:72141400-72144000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr11:72141400-72144600	Weak transcription	Right Ventricle	heart
43	chr11:72141400-72144800	Weak transcription	Fetal Intestine Large	intestine
44	chr11:72141400-72145000	Weak transcription	Ovary	ovary
45	chr11:72141600-72142200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:72141600-72142200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr11:72141600-72142200	Enhancers	Colon Smooth Muscle	Colon
48	chr11:72141600-72142600	Enhancers	Liver	Liver
49	chr11:72141600-72142600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
50	chr11:72141600-72142800	Enhancers	HSMMtube	muscle

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