Variant report

Variant	rs373235440
Chromosome Location	chr11:59435430-59435431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:59435412-59436137	MCF10A-Er-Src	breast:	n/a	chr11:59436070-59436082
2	POLR2A	chr11:59435409-59437591	U87	brain:	n/a	n/a
3	MXI1	chr11:59435221-59438035	SK-N-SH	brain:	n/a	n/a
4	FOXA1	chr11:59435300-59435554	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:59435050-59437612	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:59435049-59438055	GM12891	blood:	n/a	n/a
7	MAX	chr11:59435406-59437554	Hela-S3	cervix:	n/a	chr11:59436066-59436076
8	POLR2A	chr11:59435252-59437646	GM12892	blood:	n/a	n/a
9	HCFC1	chr11:59435284-59437792	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:59434975-59437627	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:59435033-59437862	K562	blood:	n/a	n/a
12	POLR2A	chr11:59435129-59437299	K562	blood:	n/a	n/a
13	MXI1	chr11:59435228-59437938	IMR90	lung:	n/a	n/a
14	POLR2A	chr11:59435388-59437599	Hela-S3	cervix:	n/a	n/a
15	WRNIP1	chr11:59435110-59436125	GM12878	blood:	n/a	n/a
16	MAZ	chr11:59435430-59437738	IMR90	lung:	n/a	chr11:59436066-59436076
17	FOXA2	chr11:59435282-59435569	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:59435350-59436365	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:59434984-59437954	GM12878	blood:	n/a	n/a
20	SIN3A	chr11:59435418-59437615	H1-hESC	embryonic stem cell:	n/a	chr11:59437188-59437201
21	POLR2A	chr11:59435258-59437472	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:59435280-59435481	HepG2	liver:	n/a	n/a
23	FOXA1	chr11:59435226-59435715	HepG2	liver:	n/a	n/a
24	CEBPB	chr11:59435400-59435928	HepG2	liver:	n/a	chr11:59435738-59435749 chr11:59435584-59435596
25	POLR2A	chr11:59435260-59438012	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:59435407-59435457	HEK293	kidney:	embryo
2	chr11:59435407-59435457	HCF	heart:	n/a
3	chr11:59435407-59435457	CMK	blood:	n/a
4	chr11:59435407-59435457	HepG2	liver:	n/a
5	chr11:59435407-59435457	NT2-D1	testis:	n/a
6	chr11:59435407-59435457	K562	blood:	n/a
7	chr11:59435407-59435457	AG10803	skin:	n/a
8	chr11:59435407-59435457	PANC-1	pancreas:	n/a
9	chr11:59435407-59435457	NHDF-neo	bronchial:	n/a
10	chr11:59435407-59435457	GM12891	blood:	n/a
11	chr11:59435407-59435457	AoSMC	blood vessel:	n/a
12	chr11:59435407-59435457	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:59435407-59435457	NH-A	brain:	n/a
14	chr11:59435407-59435457	ovcar-3	ovarian:	n/a
15	chr11:59435407-59435457	HL-60	blood:	n/a
16	chr11:59435407-59435457	LNCaP	prostate:	n/a
17	chr11:59435407-59435457	SK-N-SH	brain:	n/a
18	chr11:59435407-59435457	HCPEpiC	choroid plexus:	n/a
19	chr11:59435407-59435457	SAEC	small airway:	n/a
20	chr11:59435407-59435457	AG04449	skin:	fetal
21	chr11:59435407-59435457	ECC-1	luminal epithelium:	n/a
22	chr11:59435407-59435457	BE2_C	brain:	n/a
23	chr11:59435407-59435457	HRE	kidney:	n/a
24	chr11:59435407-59435457	T-47D	breast:	n/a
25	chr11:59435407-59435457	Jurkat	blood:	n/a
26	chr11:59435407-59435457	Hela-S3	cervix:	n/a
27	chr11:59435407-59435457	PrEC	prostate:	n/a
28	chr11:59435407-59435457	GM06990	blood:	n/a
29	chr11:59435407-59435457	AG09319	gingival:	n/a
30	chr11:59435407-59435457	HRCEpiC	kidney:	n/a
31	chr11:59435407-59435457	SK-N-SH_RA	brain:	n/a
32	chr11:59435407-59435457	HAEpiC	amniotic membrane:	n/a
33	chr11:59435407-59435457	HCM	heart:	n/a
34	chr11:59435407-59435457	PFSK-1	brain:	n/a
35	chr11:59435407-59435457	SK-N-MC	brain:	n/a
36	chr11:59435407-59435457	NHBE	bronchial:	n/a
37	chr11:59435407-59435457	SKMC	muscle:	n/a
38	chr11:59435407-59435457	BJ	skin:	n/a
39	chr11:59435407-59435457	HMEC	breast:	n/a
40	chr11:59435407-59435457	HNPCEpiC	eye:	n/a
41	chr11:59435407-59435457	MCF-7	breast:	n/a
42	chr11:59435407-59435457	Caco-2	colon:	n/a
43	chr11:59435407-59435457	U87	brain:	n/a
44	chr11:59435407-59435457	GM19239	blood:	n/a
45	chr11:59435407-59435457	AG04450	lung:	fetal
46	chr11:59435407-59435457	HIPEpiC	eye:	n/a
47	chr11:59435407-59435457	GM12878	blood:	n/a
48	chr11:59435407-59435457	MCF10A-Er-Src	breast:	n/a
49	chr11:59435407-59435457	HRPEpiC	eye:	n/a
50	chr11:59435407-59435457	H1-hESC	embryonic stem cell:	embryo

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59427010..59429204-chr11:59432808..59435498,2	MCF-7	breast:
2	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
3	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
4	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
5	chr11:59331158..59335239-chr11:59433739..59436205,3	K562	blood:
6	chr11:59331158..59335239-chr11:59432687..59436578,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255355	TF binding region
ENSG00000255355	CpG island
ENSG00000255008	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000255139	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv3421301	chr11:59435201-59437749	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59425600-59435600	Weak transcription	Aorta	Aorta
2	chr11:59425600-59435600	Weak transcription	Gastric	stomach
3	chr11:59433800-59435600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:59434400-59435600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:59434400-59435600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:59434400-59435600	Flanking Active TSS	Liver	Liver
7	chr11:59434400-59436000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:59434400-59437400	Active TSS	NHLF	lung
9	chr11:59434600-59435800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:59434600-59435800	Flanking Active TSS	NHEK	skin
11	chr11:59434600-59435800	Flanking Active TSS	Osteobl	bone
12	chr11:59434600-59436000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr11:59434600-59436000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:59434600-59436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:59434600-59436000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:59434600-59438400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:59434800-59435600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:59434800-59435600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:59434800-59435600	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:59434800-59435600	Flanking Active TSS	Hela-S3	cervix
21	chr11:59434800-59435800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:59434800-59435800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr11:59434800-59435800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr11:59434800-59435800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:59434800-59435800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr11:59434800-59436000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:59434800-59436000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:59435000-59435600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:59435000-59435600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr11:59435000-59435600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:59435000-59435600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:59435000-59435600	Flanking Active TSS	HepG2	liver
33	chr11:59435000-59435600	Flanking Active TSS	HMEC	breast
34	chr11:59435000-59435600	Flanking Active TSS	HSMM	muscle
35	chr11:59435000-59435800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:59435000-59435800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:59435000-59435800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr11:59435000-59435800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr11:59435000-59435800	Flanking Active TSS	Fetal Heart	heart
40	chr11:59435000-59435800	Flanking Active TSS	Fetal Lung	lung
41	chr11:59435000-59435800	Enhancers	Small Intestine	intestine
42	chr11:59435000-59435800	Flanking Active TSS	HUVEC	blood vessel
43	chr11:59435000-59436000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr11:59435000-59437400	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:59435000-59437400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:59435000-59437800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:59435000-59437800	Active TSS	Psoas Muscle	Psoas
48	chr11:59435000-59437800	Active TSS	Right Atrium	heart
49	chr11:59435200-59435600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
50	chr11:59435200-59435600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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