Variant report

Variant	rs61576899
Chromosome Location	chr11:33744409-33744410
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	POLR2A	chr11:33744187-33744510	Gliobla	brain:	n/a	n/a
2	FOS	chr11:33744082-33745201	Hela-S3	cervix:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
3	POLR2A	chr11:33744046-33744597	GM12878	blood:	n/a	n/a
4	SP1	chr11:33744276-33745340	A549	lung:	n/a	chr11:33744325-33744334
5	GATA3	chr11:33743989-33745317	MCF-7	breast:	n/a	chr11:33744249-33744258
6	NR2F2	chr11:33744110-33744482	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:33744084-33744491	GM12878	blood:	n/a	n/a
8	MAFK	chr11:33744118-33745304	Hela-S3	cervix:	n/a	chr11:33744967-33744978 chr11:33744966-33744981 chr11:33744966-33744977 chr11:33744966-33744977 chr11:33744965-33744979 chr11:33744966-33744982
9	FOS	chr11:33744077-33745318	MCF10A-Er-Src	breast:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
10	TBP	chr11:33744207-33745194	Hela-S3	cervix:	n/a	chr11:33745106-33745117
11	POLR2A	chr11:33743891-33745384	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:33744131-33745115	HUVEC	blood vessel:	n/a	n/a
13	SIN3AK20	chr11:33744166-33745383	MCF-7	breast:	n/a	n/a
14	JUN	chr11:33743384-33746124	K562	blood:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33743823-33743837 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
15	MAFK	chr11:33744171-33745201	K562	blood:	n/a	chr11:33744967-33744978 chr11:33744966-33744981 chr11:33744966-33744977 chr11:33744966-33744977 chr11:33744965-33744979 chr11:33744966-33744982
16	SMC3	chr11:33744120-33745321	Hela-S3	cervix:	n/a	n/a
17	MTA3	chr11:33744070-33744713	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:33744282-33744535	A549	lung:	n/a	n/a
19	RCOR1	chr11:33744061-33745362	K562	blood:	n/a	n/a
20	STAT1	chr11:33744156-33744597	GM12878	blood:	n/a	n/a
21	STAT3	chr11:33744084-33745504	MCF10A-Er-Src	breast:	n/a	chr11:33745002-33745011 chr11:33745001-33745010 chr11:33744963-33744971 chr11:33744999-33745013 chr11:33744850-33744859
22	SMARCC1	chr11:33743576-33745488	Hela-S3	cervix:	n/a	chr11:33744849-33744858 chr11:33744850-33744859
23	NR2F2	chr11:33744068-33745473	K562	blood:	n/a	n/a
24	STAT3	chr11:33744158-33745360	MCF10A-Er-Src	breast:	n/a	chr11:33745002-33745011 chr11:33745001-33745010 chr11:33744963-33744971 chr11:33744999-33745013 chr11:33744850-33744859
25	UBTF	chr11:33744274-33744533	K562	blood:	n/a	n/a
26	MAZ	chr11:33744033-33744508	K562	blood:	n/a	n/a
27	STAT5A	chr11:33744015-33744565	GM12878	blood:	n/a	chr11:33744020-33744032
28	JUN	chr11:33744196-33745189	K562	blood:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
29	TBP	chr11:33744099-33744602	GM12878	blood:	n/a	n/a
30	GTF2F1	chr11:33744072-33745309	Hela-S3	cervix:	n/a	chr11:33745106-33745117
31	RCOR1	chr11:33744189-33745279	K562	blood:	n/a	n/a
32	CEBPB	chr11:33744346-33744697	K562	blood:	n/a	n/a
33	EBF1	chr11:33743997-33745421	GM12878	blood:	n/a	chr11:33744888-33744897 chr11:33744888-33744897 chr11:33744886-33744899 chr11:33744888-33744898
34	MAZ	chr11:33744225-33744418	GM12878	blood:	n/a	n/a
35	RUNX3	chr11:33743963-33744588	GM12878	blood:	n/a	n/a
36	GATA3	chr11:33743876-33745488	A549	lung:	n/a	chr11:33744249-33744258
37	RUNX3	chr11:33744018-33744510	GM12878	blood:	n/a	n/a
38	CEBPB	chr11:33744192-33744771	K562	blood:	n/a	n/a
39	TCF12	chr11:33744002-33745334	SK-N-SH	brain:	n/a	n/a
40	TCF12	chr11:33744132-33745323	SK-N-SH	brain:	n/a	n/a
41	MTA3	chr11:33743939-33744513	GM12878	blood:	n/a	n/a
42	IRF4	chr11:33744031-33744586	GM12878	blood:	n/a	n/a
43	GATA3	chr11:33744095-33745101	T-47D	breast:	n/a	chr11:33744249-33744258
44	JUND	chr11:33744097-33745218	Hela-S3	cervix:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
45	POLR2A	chr11:33744018-33745419	U87	brain:	n/a	n/a
46	BCL3	chr11:33744080-33744556	GM12878	blood:	n/a	n/a
47	FOS	chr11:33744140-33745124	K562	blood:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
48	JUN	chr11:33744106-33745204	K562	blood:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
49	FOSL2	chr11:33744073-33744521	MCF-7	breast:	n/a	n/a
50	TEAD4	chr11:33744049-33745478	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:33744366-33744416	HCPEpiC	choroid plexus:	n/a
2	chr11:33744366-33744416	U87	brain:	n/a
3	chr11:33744366-33744416	AG09319	gingival:	n/a
4	chr11:33744366-33744416	AG10803	skin:	n/a
5	chr11:33744366-33744416	SKMC	muscle:	n/a
6	chr11:33744366-33744416	BE2_C	brain:	n/a
7	chr11:33744366-33744416	SAEC	small airway:	n/a
8	chr11:33744366-33744416	HCM	heart:	n/a
9	chr11:33744366-33744416	GM19239	blood:	n/a
10	chr11:33744366-33744416	NB4	blood:	n/a
11	chr11:33744366-33744416	ovcar-3	ovarian:	n/a
12	chr11:33744366-33744416	HEK293	kidney:	embryo
13	chr11:33744366-33744416	HMEC	breast:	n/a
14	chr11:33744366-33744416	BJ	skin:	n/a
15	chr11:33744366-33744416	ProgFib	skin:	n/a
16	chr11:33744366-33744416	SK-N-SH_RA	brain:	n/a
17	chr11:33744366-33744416	Caco-2	colon:	n/a
18	chr11:33744366-33744416	ECC-1	luminal epithelium:	n/a
19	chr11:33744366-33744416	HRCEpiC	kidney:	n/a
20	chr11:33744366-33744416	HepG2	liver:	n/a
21	chr11:33744366-33744416	NHDF-neo	bronchial:	n/a
22	chr11:33744366-33744416	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:33744366-33744416	HIPEpiC	eye:	n/a
24	chr11:33744366-33744416	PANC-1	pancreas:	n/a
25	chr11:33744366-33744416	GM06990	blood:	n/a
26	chr11:33744366-33744416	Jurkat	blood:	n/a
27	chr11:33744366-33744416	HL-60	blood:	n/a
28	chr11:33744366-33744416	MCF-7	breast:	n/a
29	chr11:33744366-33744416	IMR90	lung:	fetal
30	chr11:33744366-33744416	HAEpiC	amniotic membrane:	n/a
31	chr11:33744366-33744416	LNCaP	prostate:	n/a
32	chr11:33744366-33744416	HRE	kidney:	n/a
33	chr11:33744366-33744416	H1-hESC	embryonic stem cell:	embryo
34	chr11:33744366-33744416	GM12891	blood:	n/a
35	chr11:33744366-33744416	HEEpiC	esophagus:	n/a
36	chr11:33744366-33744416	T-47D	breast:	n/a
37	chr11:33744366-33744416	AG09309	skin:	n/a
38	chr11:33744366-33744416	HCF	heart:	n/a
39	chr11:33744366-33744416	PrEC	prostate:	n/a
40	chr11:33744366-33744416	AG04449	skin:	fetal
41	chr11:33744366-33744416	GM12892	blood:	n/a
42	chr11:33744366-33744416	SK-N-MC	brain:	n/a
43	chr11:33744366-33744416	MCF10A-Er-Src	breast:	n/a
44	chr11:33744366-33744416	RPTEC	kidney:	n/a
45	chr11:33744366-33744416	GM12878	blood:	n/a
46	chr11:33744366-33744416	AoSMC	blood vessel:	n/a
47	chr11:33744366-33744416	PFSK-1	brain:	n/a
48	chr11:33744366-33744416	Hela-S3	cervix:	n/a
49	chr11:33744366-33744416	A549	lung:	n/a
50	chr11:33744366-33744416	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33741862..33744483-chr11:33754300..33758090,5	K562	blood:
2	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
3	chr11:33737769..33742301-chr11:33743570..33746479,4	K562	blood:
4	chr11:33729551..33732086-chr11:33743744..33746634,3	K562	blood:
5	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
6	chr11:33738010..33741280-chr11:33742566..33747348,4	MCF-7	breast:
7	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:

Variant related genes	Relation type
CD59	TF binding region
CD59	CpG island
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57867058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58412081	1.00[AMR][1000 genomes]
rs58451441	1.00[AMR][1000 genomes]
rs61217095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484914	1.00[AMR][1000 genomes]
rs73490854	1.00[AMR][1000 genomes]
rs73490869	1.00[AMR][1000 genomes]
rs73491051	1.00[AMR][1000 genomes]
rs73492932	1.00[AMR][1000 genomes]
rs73494779	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33723000-33746000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:33723400-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:33723400-33745800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:33723400-33746000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
6	chr11:33728400-33744600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:33728600-33745000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:33732000-33745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:33732000-33746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:33733800-33744600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:33734800-33744800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:33737000-33745000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:33737600-33747000	Genic enhancers	HMEC	breast
14	chr11:33738600-33747400	Genic enhancers	NHEK	skin
15	chr11:33738800-33747600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:33739800-33745000	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr11:33740000-33745000	Genic enhancers	Thymus	Thymus
18	chr11:33740000-33746000	Genic enhancers	Fetal Thymus	thymus
19	chr11:33740000-33747200	Genic enhancers	HSMM	muscle
20	chr11:33741000-33752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:33741200-33746600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:33741600-33744600	Genic enhancers	HUVEC	blood vessel
23	chr11:33741800-33746000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:33742200-33746600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:33742400-33744600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:33742400-33744600	Genic enhancers	NHLF	lung
27	chr11:33742400-33744800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:33742800-33744600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:33742800-33746200	Enhancers	Colon Smooth Muscle	Colon
30	chr11:33743000-33745400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:33743200-33745000	Genic enhancers	Rectal Mucosa Donor 29	rectum
32	chr11:33743200-33745400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:33743200-33746000	Enhancers	Rectal Smooth Muscle	rectum
34	chr11:33743200-33747200	Enhancers	Right Atrium	heart
35	chr11:33743400-33744600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:33743400-33745000	Strong transcription	Fetal Stomach	stomach
37	chr11:33743400-33746400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
38	chr11:33743400-33746600	Genic enhancers	Esophagus	oesophagus
39	chr11:33743400-33746600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:33743400-33746800	Enhancers	Stomach Mucosa	stomach
41	chr11:33743600-33745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:33743600-33745600	Enhancers	GM12878-XiMat	blood
43	chr11:33743600-33746400	Enhancers	Small Intestine	intestine
44	chr11:33743600-33747200	Enhancers	Brain Hippocampus Middle	brain
45	chr11:33743800-33744600	Weak transcription	Ovary	ovary
46	chr11:33743800-33745000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:33743800-33745200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:33743800-33746000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:33743800-33747200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:33743800-33747600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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