Variant report

Variant	rs7129526
Chromosome Location	chr11:72142352-72142353
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	FOXA1	chr11:72142037-72142524	HepG2	liver:	n/a	chr11:72142249-72142264
2	CTCF	chr11:72141938-72142526	MCF-7	breast:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
3	RAD21	chr11:72142035-72142362	K562	blood:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
4	SIN3AK20	chr11:72142036-72142422	SK-N-SH	brain:	n/a	n/a
5	RUNX3	chr11:72141790-72142376	GM12878	blood:	n/a	n/a
6	RAD21	chr11:72141926-72142444	ECC-1	luminal epithelium:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
7	RAD21	chr11:72141985-72142412	Hela-S3	cervix:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
8	KAP1	chr11:72141925-72142494	HEK293	kidney:	n/a	n/a
9	CTCF	chr11:72142048-72142353	GM12891	blood:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
10	CTCF	chr11:72141805-72142547	HCT-116	colon:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
11	RAD21	chr11:72141912-72142450	H1-hESC	embryonic stem cell:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
12	CTCF	chr11:72141984-72142424	GM12878	blood:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
13	CTCF	chr11:72141971-72142438	T-47D	breast:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
14	RAD21	chr11:72141868-72142430	H1-hESC	embryonic stem cell:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
15	FOXM1	chr11:72141932-72142440	GM12878	blood:	n/a	n/a
16	CTCF	chr11:72142077-72142355	LNCaP	prostate:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
17	RAD21	chr11:72142018-72142374	A549	lung:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
18	FOXA2	chr11:72141985-72142541	A549	lung:	n/a	n/a
19	ZNF143	chr11:72142028-72142381	K562	blood:	n/a	n/a
20	MAFF	chr11:72142016-72142364	HepG2	liver:	n/a	n/a
21	SMC3	chr11:72142009-72142405	Hela-S3	cervix:	n/a	chr11:72142202-72142216
22	CTCF	chr11:72142001-72142355	K562	blood:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
23	CTCF	chr11:72141900-72142485	MCF-7	breast:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
24	MAFK	chr11:72142061-72142396	K562	blood:	n/a	chr11:72142233-72142243
25	CTCF	chr11:72142059-72142352	MCF-7	breast:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
26	MAZ	chr11:72142075-72142357	K562	blood:	n/a	n/a
27	FOXA1	chr11:72141995-72142451	T-47D	breast:	n/a	chr11:72142249-72142264
28	RAD21	chr11:72141981-72142425	HepG2	liver:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
29	SMC3	chr11:72142001-72142373	K562	blood:	n/a	chr11:72142202-72142216
30	FOXA1	chr11:72142020-72142460	HepG2	liver:	n/a	chr11:72142249-72142264
31	RAD21	chr11:72141915-72142353	HepG2	liver:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
32	CTCF	chr11:72142049-72142385	GM19238	blood:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
33	RAD21	chr11:72141951-72142482	HepG2	liver:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
34	E2F4	chr11:72142118-72142356	GM12878	blood:	n/a	n/a
35	RAD21	chr11:72141838-72142463	IMR90	lung:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
36	CTCF	chr11:72141953-72142383	HepG2	liver:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
37	CTCF	chr11:72142057-72142366	Spleen_OC	spleen:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
38	MAFK	chr11:72141985-72142409	HepG2	liver:	n/a	chr11:72142233-72142243
39	CTCF	chr11:72141997-72142429	IMR90	lung:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
40	WRNIP1	chr11:72141961-72142357	GM12878	blood:	n/a	n/a
41	RAD21	chr11:72141917-72142426	ECC-1	luminal epithelium:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
42	ZNF143	chr11:72142045-72142385	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZNF143	chr11:72142061-72142374	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr11:72141865-72142455	MCF-7	breast:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
45	CTCF	chr11:72142019-72142366	A549	lung:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
46	RAD21	chr11:72141967-72142378	GM12878	blood:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
47	CREB1	chr11:72141988-72142375	A549	lung:	n/a	n/a
48	CTCF	chr11:72141981-72142449	A549	lung:	n/a	chr11:72142195-72142216 chr11:72142202-72142215 chr11:72142200-72142218
49	RAD21	chr11:72141871-72142449	SK-N-SH_RA	brain:	n/a	chr11:72142198-72142217 chr11:72142202-72142216
50	FOXA2	chr11:72142066-72142449	A549	lung:	n/a	n/a

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	chr11:72058950..72059697-chr11:72142076..72142654,2	MCF-7	breast:
5	chr11:71802429..71803055-chr11:72141805..72142468,2	MCF-7	breast:
6	chr11:71932379..71935171-chr11:72141438..72143643,2	K562	blood:
7	chr11:72141748..72142617-chr11:72158017..72158572,2	MCF-7	breast:
8	chr11:71802072..71802706-chr11:72141920..72142483,2	MCF-7	breast:
9	chr11:72059204..72059745-chr11:72141792..72142640,3	MCF-7	breast:
10	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: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11235499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1160142	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11821309	0.93[ASN][1000 genomes]
rs11828128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12295464	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17160018	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17162150	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs57380316	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57402767	1.00[AFR][1000 genomes];0.95[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];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109307	0.95[EUR][1000 genomes]
rs7109466	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7111173	0.85[EUR][1000 genomes]
rs7118089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118697	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]
rs7120137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs7927430	1.00[CEU][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[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950298	0.82[CEU][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	chr11:72136400-72144200	Weak transcription	Fetal Heart	heart
12	chr11:72136800-72144800	Weak transcription	Right Atrium	heart
13	chr11:72137400-72144800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:72137600-72143800	Weak transcription	Psoas Muscle	Psoas
15	chr11:72137600-72144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:72138000-72144800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:72138800-72143600	Weak transcription	Fetal Lung	lung
18	chr11:72139400-72144600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:72140000-72144800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:72140000-72144800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:72140200-72144000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:72140200-72144800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:72140200-72144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:72140200-72144800	Weak transcription	Colonic Mucosa	Colon
25	chr11:72140400-72144800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:72140600-72144800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:72140800-72144800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:72141000-72144800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:72141000-72144800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr11:72141200-72144000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:72141200-72144600	Weak transcription	A549	lung
32	chr11:72141200-72144800	Weak transcription	Left Ventricle	heart
33	chr11:72141200-72145000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:72141400-72143600	Weak transcription	Gastric	stomach
35	chr11:72141400-72144000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:72141400-72144600	Weak transcription	Right Ventricle	heart
37	chr11:72141400-72144800	Weak transcription	Fetal Intestine Large	intestine
38	chr11:72141400-72145000	Weak transcription	Ovary	ovary
39	chr11:72141600-72142600	Enhancers	Liver	Liver
40	chr11:72141600-72142600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
41	chr11:72141600-72142800	Enhancers	HSMMtube	muscle
42	chr11:72141600-72143000	Weak transcription	Pancreas	Pancrea
43	chr11:72141600-72143400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:72141600-72143400	Weak transcription	Lung	lung
45	chr11:72141600-72143800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:72141600-72144000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:72141600-72144000	Weak transcription	Fetal Stomach	stomach
48	chr11:72141600-72144200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:72141600-72144800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:72141600-72144800	Enhancers	Primary monocytes fromperipheralblood	blood

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