Variant report

Variant	rs58419940
Chromosome Location	chr11:8836049-8836050
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	USF2	chr11:8835973-8836136	Hela-S3	cervix:	n/a	n/a
2	SIN3AK20	chr11:8835648-8836197	PFSK-1	brain:	n/a	n/a
3	GATA3	chr11:8835646-8836453	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:8835953-8836162	Hela-S3	cervix:	n/a	n/a
5	GATA2	chr11:8835972-8836345	SH-SY5Y	brain:	n/a	n/a
6	POLR2A	chr11:8835816-8836182	MCF10A-Er-Src	breast:	n/a	n/a
7	RAD21	chr11:8834967-8836055	IMR90	lung:	n/a	chr11:8835207-8835217 chr11:8835305-8835319 chr11:8835301-8835320
8	MAX	chr11:8835914-8836102	NB4	blood:	n/a	n/a
9	E2F4	chr11:8835953-8836222	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr11:8835713-8836227	Hela-S3	cervix:	n/a	n/a
11	FOS	chr11:8835722-8836295	MCF10A-Er-Src	breast:	n/a	n/a
12	BHLHE40	chr11:8835775-8836105	K562	blood:	n/a	n/a
13	CEBPB	chr11:8835762-8836287	Hela-S3	cervix:	n/a	n/a
14	ZNF384	chr11:8835192-8836097	K562	blood:	n/a	n/a
15	MYC	chr11:8835231-8836263	Hela-S3	cervix:	n/a	n/a
16	SMARCC1	chr11:8835309-8836596	Hela-S3	cervix:	n/a	n/a
17	ZNF384	chr11:8835575-8836065	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:8835810-8836221	Hela-S3	cervix:	n/a	n/a
19	STAT3	chr11:8835132-8836749	MCF10A-Er-Src	breast:	n/a	chr11:8836535-8836543 chr11:8836721-8836733 chr11:8836532-8836546 chr11:8836505-8836513
20	FOS	chr11:8835708-8836275	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT1	chr11:8835157-8836788	Hela-S3	cervix:	n/a	chr11:8836535-8836543 chr11:8836533-8836544 chr11:8836721-8836733 chr11:8836532-8836546 chr11:8836505-8836513 chr11:8836506-8836517
22	ATF1	chr11:8835699-8836199	K562	blood:	n/a	n/a
23	TAF1	chr11:8835827-8836112	Hela-S3	cervix:	n/a	n/a
24	REST	chr11:8835687-8836138	PFSK-1	brain:	n/a	n/a
25	RAD21	chr11:8834871-8836175	SK-N-SH	brain:	n/a	chr11:8835207-8835217 chr11:8835305-8835319 chr11:8835301-8835320
26	CEBPB	chr11:8836035-8836211	HepG2	liver:	n/a	n/a
27	STAT3	chr11:8835182-8836806	MCF10A-Er-Src	breast:	n/a	chr11:8836535-8836543 chr11:8836721-8836733 chr11:8836532-8836546 chr11:8836505-8836513
28	SIN3AK20	chr11:8835782-8836194	PFSK-1	brain:	n/a	n/a
29	TAF1	chr11:8835633-8836328	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr11:8835844-8836105	Hela-S3	cervix:	n/a	n/a
31	STAT3	chr11:8835128-8836787	MCF10A-Er-Src	breast:	n/a	chr11:8836535-8836543 chr11:8836721-8836733 chr11:8836532-8836546 chr11:8836505-8836513
32	ELK4	chr11:8835833-8836320	Hela-S3	cervix:	n/a	n/a
33	GATA3	chr11:8835790-8836363	T-47D	breast:	n/a	n/a
34	TCF7L2	chr11:8836042-8836555	PANC-1	pancreas:	n/a	n/a
35	POLR2A	chr11:8835148-8836616	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF7L2	chr11:8835763-8836207	Hela-S3	cervix:	n/a	n/a
37	KAP1	chr11:8835171-8836206	U2OS	brain:	n/a	n/a
38	MYC	chr11:8835143-8836229	MCF10A-Er-Src	breast:	n/a	n/a
39	GATA3	chr11:8835045-8836538	SK-N-SH	brain:	n/a	n/a
40	GATA2	chr11:8835142-8836265	HUVEC	blood vessel:	n/a	n/a
41	MYC	chr11:8835150-8836678	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr11:8835199-8836639	MCF10A-Er-Src	breast:	n/a	chr11:8836573-8836587
43	STAT3	chr11:8835795-8836288	MCF10A-Er-Src	breast:	n/a	n/a
44	REST	chr11:8835831-8836153	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr11:8835661-8836396	PFSK-1	brain:	n/a	n/a
46	FOS	chr11:8835145-8836760	MCF10A-Er-Src	breast:	n/a	chr11:8836573-8836587
47	CTCF	chr11:8835900-8836050	GM12865	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8836048-8836098	HUVEC	blood vessel:	n/a
2	chr11:8836048-8836098	ECC-1	luminal epithelium:	n/a
3	chr11:8836048-8836098	ProgFib	skin:	n/a
4	chr11:8836048-8836098	MCF10A-Er-Src	breast:	n/a
5	chr11:8836048-8836098	T-47D	breast:	n/a
6	chr11:8836048-8836098	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:8836048-8836098	PANC-1	pancreas:	n/a
8	chr11:8836048-8836098	CMK	blood:	n/a
9	chr11:8836048-8836098	SAEC	small airway:	n/a
10	chr11:8836048-8836098	IMR90	lung:	fetal
11	chr11:8836048-8836098	AoSMC	blood vessel:	n/a
12	chr11:8836048-8836098	AG04450	lung:	fetal
13	chr11:8836048-8836098	HEEpiC	esophagus:	n/a
14	chr11:8836048-8836098	A549	lung:	n/a
15	chr11:8836048-8836098	MCF-7	breast:	n/a
16	chr11:8836048-8836098	BJ	skin:	n/a
17	chr11:8836048-8836098	U87	brain:	n/a
18	chr11:8836048-8836098	HMEC	breast:	n/a
19	chr11:8836048-8836098	HCF	heart:	n/a
20	chr11:8836048-8836098	Jurkat	blood:	n/a
21	chr11:8836048-8836098	Hepatocyte	liver:	n/a
22	chr11:8836048-8836098	LNCaP	prostate:	n/a
23	chr11:8836048-8836098	HCM	heart:	n/a
24	chr11:8836048-8836098	H1-hESC	embryonic stem cell:	embryo
25	chr11:8836048-8836098	AG10803	skin:	n/a
26	chr11:8836048-8836098	AG09309	skin:	n/a
27	chr11:8836048-8836098	HEK293	kidney:	embryo
28	chr11:8836048-8836098	PrEC	prostate:	n/a
29	chr11:8836048-8836098	HAEpiC	amniotic membrane:	n/a
30	chr11:8836048-8836098	HRPEpiC	eye:	n/a
31	chr11:8836048-8836098	HNPCEpiC	eye:	n/a
32	chr11:8836048-8836098	GM12891	blood:	n/a
33	chr11:8836048-8836098	NHDF-neo	bronchial:	n/a
34	chr11:8836048-8836098	Hela-S3	cervix:	n/a
35	chr11:8836048-8836098	GM12892	blood:	n/a
36	chr11:8836048-8836098	NT2-D1	testis:	n/a
37	chr11:8836048-8836098	AG09319	gingival:	n/a
38	chr11:8836048-8836098	GM12878	blood:	n/a
39	chr11:8836048-8836098	SK-N-MC	brain:	n/a
40	chr11:8836048-8836098	HL-60	blood:	n/a
41	chr11:8836048-8836098	AG04449	skin:	fetal
42	chr11:8836048-8836098	HRE	kidney:	n/a
43	chr11:8836048-8836098	SK-N-SH	brain:	n/a
44	chr11:8836048-8836098	HepG2	liver:	n/a
45	chr11:8836048-8836098	HCT-116	colon:	n/a
46	chr11:8836048-8836098	RPTEC	kidney:	n/a
47	chr11:8836048-8836098	Caco-2	colon:	n/a
48	chr11:8836048-8836098	SK-N-SH_RA	brain:	n/a
49	chr11:8836048-8836098	BE2_C	brain:	n/a
50	chr11:8836048-8836098	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8711214..8713494-chr11:8834662..8837467,3	K562	blood:
2	chr11:8835559..8836309-chr6:74226294..74227037,2	Hela-S3	cervix:
3	chr11:8835358..8837463-chr11:8838521..8841389,2	MCF-7	breast:
4	chr11:8708964..8711177-chr11:8835969..8837619,2	MCF-7	breast:
5	chr11:8831391..8833809-chr11:8833845..8836255,2	K562	blood:

Variant related genes	Relation type
ST5	TF binding region
ST5	CpG island
ENSG00000166441	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16905815	1.00[AMR][1000 genomes]
rs56210429	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56388022	1.00[AMR][1000 genomes]
rs57145477	1.00[AMR][1000 genomes]
rs59279926	1.00[AMR][1000 genomes]
rs59314560	1.00[AMR][1000 genomes]
rs59524952	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59974779	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60980006	1.00[AMR][1000 genomes]
rs6484494	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053135	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053138	1.00[AMR][1000 genomes]
rs74053141	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053166	1.00[AMR][1000 genomes]
rs74053169	1.00[AMR][1000 genomes]
rs74053170	1.00[AMR][1000 genomes]
rs74053172	1.00[AMR][1000 genomes]
rs74053175	1.00[AMR][1000 genomes]
rs74053180	1.00[AMR][1000 genomes]
rs74053189	1.00[AMR][1000 genomes]
rs74054210	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054218	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7944416	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7944777	1.00[AMR][1000 genomes]
rs7945378	1.00[AMR][1000 genomes]
rs7949286	1.00[AMR][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527073	chr11:8829168-8848463	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8832400-8836800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr11:8832600-8840800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:8832800-8837400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:8833000-8836200	Enhancers	Stomach Mucosa	stomach
5	chr11:8833000-8836400	Enhancers	Colon Smooth Muscle	Colon
6	chr11:8833000-8837200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:8833000-8837200	Enhancers	NHDF-Ad	bronchial
8	chr11:8833000-8837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:8833000-8837600	Enhancers	NHLF	lung
10	chr11:8833000-8839200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:8833200-8836400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:8833200-8836600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:8833200-8837000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:8833200-8837000	Weak transcription	Esophagus	oesophagus
15	chr11:8833200-8837200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:8833200-8837200	Enhancers	HMEC	breast
17	chr11:8833200-8837200	Enhancers	Osteobl	bone
18	chr11:8833200-8837400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:8833200-8837400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:8833200-8837400	Enhancers	NHEK	skin
21	chr11:8833200-8837800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
23	chr11:8833400-8837200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:8833800-8837400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:8834000-8836200	Enhancers	A549	lung
26	chr11:8834000-8836600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:8834200-8837400	Enhancers	Placenta	Placenta
28	chr11:8834200-8838600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:8834200-8839000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:8834400-8836400	Enhancers	Primary T cells from cord blood	blood
31	chr11:8834400-8836400	Enhancers	Fetal Intestine Small	intestine
32	chr11:8834400-8836400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:8834400-8836600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr11:8834400-8837400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:8834600-8837400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:8834800-8836200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr11:8834800-8836200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:8834800-8836200	Enhancers	Fetal Intestine Large	intestine
39	chr11:8834800-8836200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr11:8834800-8836400	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:8834800-8836400	Enhancers	Fetal Muscle Leg	muscle
42	chr11:8834800-8837000	Flanking Active TSS	Hela-S3	cervix
43	chr11:8834800-8837400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr11:8834800-8837400	Enhancers	Dnd41	blood
45	chr11:8834800-8838200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:8835000-8836200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:8835000-8836200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:8835000-8836200	Enhancers	GM12878-XiMat	blood
49	chr11:8835000-8836200	Enhancers	HUVEC	blood vessel
50	chr11:8835000-8836400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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