Variant report

Variant	rs115761525
Chromosome Location	chr3:142720726-142720727
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	ZBTB33	chr3:142719803-142720727	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr3:142719252-142721364	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:142719852-142721216	HepG2	liver:	n/a	n/a
4	MAX	chr3:142719294-142721539	HepG2	liver:	n/a	chr3:142721094-142721103 chr3:142720319-142720327 chr3:142721422-142721431 chr3:142720321-142720330
5	STAT5A	chr3:142719814-142720836	GM12878	blood:	n/a	n/a
6	BHLHE40	chr3:142719609-142720822	GM12878	blood:	n/a	chr3:142720319-142720332 chr3:142720321-142720330 chr3:142720320-142720329 chr3:142720321-142720330 chr3:142720322-142720331 chr3:142720433-142720449
7	REST	chr3:142719762-142721412	HL-60	blood:	n/a	chr3:142720854-142720874 chr3:142720854-142720874 chr3:142721035-142721048
8	MXI1	chr3:142719220-142721923	Hela-S3	cervix:	n/a	chr3:142721094-142721103
9	MAX	chr3:142719766-142721541	ECC-1	luminal epithelium:	n/a	chr3:142721094-142721103 chr3:142720319-142720327 chr3:142721422-142721431 chr3:142720321-142720330
10	POLR2A	chr3:142719768-142720854	ProgFib	skin:	n/a	n/a
11	MAZ	chr3:142719874-142720878	Hela-S3	cervix:	n/a	chr3:142720319-142720327 chr3:142720321-142720330
12	MYC	chr3:142720653-142720731	MCF-7	breast:	n/a	n/a
13	MXI1	chr3:142719180-142721608	IMR90	lung:	n/a	chr3:142721094-142721103
14	REST	chr3:142720303-142720819	ECC-1	luminal epithelium:	n/a	n/a
15	TAF1	chr3:142719820-142721037	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr3:142719742-142720864	GM12891	blood:	n/a	n/a
17	WRNIP1	chr3:142719833-142721449	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:142719864-142720891	A549	lung:	n/a	n/a
19	MXI1	chr3:142719929-142721536	H1-hESC	embryonic stem cell:	n/a	chr3:142721094-142721103
20	MYC	chr3:142719887-142721480	K562	blood:	n/a	chr3:142721094-142721103 chr3:142720319-142720327 chr3:142721422-142721431 chr3:142720321-142720330
21	CHD1	chr3:142719781-142720764	GM12878	blood:	n/a	n/a
22	REST	chr3:142719848-142720805	H1-neurons	neurons:	n/a	n/a
23	TCF12	chr3:142720044-142720737	A549	lung:	n/a	chr3:142720211-142720218
24	MAX	chr3:142719674-142721739	A549	lung:	n/a	chr3:142721094-142721103 chr3:142720319-142720327 chr3:142721422-142721431 chr3:142720321-142720330
25	EP300	chr3:142719873-142720837	A549	lung:	n/a	chr3:142720641-142720650 chr3:142720315-142720322 chr3:142720441-142720450
26	YY1	chr3:142720259-142721442	K562	blood:	n/a	chr3:142721317-142721339 chr3:142720435-142720449 chr3:142720640-142720649 chr3:142720635-142720649 chr3:142721320-142721328
27	SMC3	chr3:142719940-142721116	Hela-S3	cervix:	n/a	n/a
28	POU2F2	chr3:142719810-142720727	GM12891	blood:	n/a	n/a
29	GABPA	chr3:142719796-142720773	SK-N-SH	brain:	n/a	n/a
30	TEAD4	chr3:142719938-142720813	SK-N-SH	brain:	n/a	n/a
31	PML	chr3:142719584-142721605	GM12878	blood:	n/a	chr3:142721578-142721586
32	HCFC1	chr3:142719752-142721562	K562	blood:	n/a	n/a
33	NR2C2	chr3:142720030-142721155	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr3:142719928-142721238	HEK293	kidney:	n/a	n/a
35	POLR2A	chr3:142719607-142720770	U87	brain:	n/a	n/a
36	POLR2A	chr3:142719169-142721475	IMR90	lung:	n/a	n/a
37	POLR2A	chr3:142719672-142721713	PBDE	blood:	n/a	n/a
38	YY1	chr3:142720154-142720828	A549	lung:	n/a	chr3:142720435-142720449 chr3:142720640-142720649 chr3:142720635-142720649
39	POLR2A	chr3:142719623-142720842	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr3:142719380-142721545	GM18505	blood:	n/a	n/a
41	POLR2A	chr3:142719815-142721231	HUVEC	blood vessel:	n/a	n/a
42	REST	chr3:142719922-142720728	A549	lung:	n/a	n/a
43	E2F6	chr3:142720050-142721381	H1-hESC	embryonic stem cell:	n/a	chr3:142720438-142720448
44	POLR2A	chr3:142719733-142721660	SK-N-MC	brain:	n/a	n/a
45	REST	chr3:142719648-142721356	A549	lung:	n/a	chr3:142720854-142720874 chr3:142720854-142720874 chr3:142721035-142721048
46	BHLHE40	chr3:142719477-142721305	K562	blood:	n/a	chr3:142720319-142720332 chr3:142720321-142720330 chr3:142720320-142720329 chr3:142720321-142720330 chr3:142720322-142720331 chr3:142720433-142720449
47	MAZ	chr3:142719843-142721606	IMR90	lung:	n/a	chr3:142721094-142721103 chr3:142720319-142720327 chr3:142721422-142721431 chr3:142720321-142720330
48	POLR2A	chr3:142719618-142720816	HUVEC	blood vessel:	n/a	n/a
49	YY1	chr3:142719801-142721133	GM12892	blood:	n/a	chr3:142720435-142720449 chr3:142720640-142720649 chr3:142720635-142720649
50	MAX	chr3:142719738-142721361	SK-N-SH	brain:	n/a	chr3:142721094-142721103 chr3:142720319-142720327 chr3:142720321-142720330

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142720700-142720750	MCF10A-Er-Src	breast:	n/a
2	chr3:142720700-142720750	SAEC	small airway:	n/a
3	chr3:142720700-142720750	HCF	heart:	n/a
4	chr3:142720700-142720750	HCT-116	colon:	n/a
5	chr3:142720700-142720750	NHBE	bronchial:	n/a
6	chr3:142720700-142720750	AG09319	gingival:	n/a
7	chr3:142720700-142720750	AG04450	lung:	fetal
8	chr3:142720700-142720750	Hepatocyte	liver:	n/a
9	chr3:142720700-142720750	BE2_C	brain:	n/a
10	chr3:142720700-142720750	HRPEpiC	eye:	n/a
11	chr3:142720700-142720750	U87	brain:	n/a
12	chr3:142720700-142720750	GM06990	blood:	n/a
13	chr3:142720700-142720750	HMEC	breast:	n/a
14	chr3:142720700-142720750	GM12891	blood:	n/a
15	chr3:142720700-142720750	NT2-D1	testis:	n/a
16	chr3:142720700-142720750	HEEpiC	esophagus:	n/a
17	chr3:142720700-142720750	HUVEC	blood vessel:	n/a
18	chr3:142720700-142720750	AG10803	skin:	n/a
19	chr3:142720700-142720750	SK-N-MC	brain:	n/a
20	chr3:142720700-142720750	Jurkat	blood:	n/a
21	chr3:142720700-142720750	HCM	heart:	n/a
22	chr3:142720700-142720750	GM12878	blood:	n/a
23	chr3:142720700-142720750	HNPCEpiC	eye:	n/a
24	chr3:142720700-142720750	PANC-1	pancreas:	n/a
25	chr3:142720700-142720750	NHDF-neo	bronchial:	n/a
26	chr3:142720700-142720750	IMR90	lung:	fetal
27	chr3:142720700-142720750	Caco-2	colon:	n/a
28	chr3:142720700-142720750	AG09309	skin:	n/a
29	chr3:142720700-142720750	HRCEpiC	kidney:	n/a
30	chr3:142720700-142720750	CMK	blood:	n/a
31	chr3:142720700-142720750	HRE	kidney:	n/a
32	chr3:142720700-142720750	SKMC	muscle:	n/a
33	chr3:142720700-142720750	NH-A	brain:	n/a
34	chr3:142720700-142720750	ProgFib	skin:	n/a
35	chr3:142720700-142720750	K562	blood:	n/a
36	chr3:142720700-142720750	H1-hESC	embryonic stem cell:	embryo
37	chr3:142720700-142720750	NB4	blood:	n/a
38	chr3:142720700-142720750	SK-N-SH_RA	brain:	n/a
39	chr3:142720700-142720750	HepG2	liver:	n/a
40	chr3:142720700-142720750	HEK293	kidney:	embryo
41	chr3:142720700-142720750	Hela-S3	cervix:	n/a
42	chr3:142720700-142720750	ovcar-3	ovarian:	n/a
43	chr3:142720700-142720750	HCPEpiC	choroid plexus:	n/a
44	chr3:142720700-142720750	A549	lung:	n/a
45	chr3:142720700-142720750	AoSMC	blood vessel:	n/a
46	chr3:142720700-142720750	GM19239	blood:	n/a
47	chr3:142720700-142720750	HAEpiC	amniotic membrane:	n/a
48	chr3:142720700-142720750	ECC-1	luminal epithelium:	n/a
49	chr3:142720700-142720750	HIPEpiC	eye:	n/a
50	chr3:142720700-142720750	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:142296202..142300183-chr3:142719946..142722583,4	K562	blood:
2	chr3:142605846..142608751-chr3:142718093..142722238,5	K562	blood:
3	chr3:142295888..142299099-chr3:142720440..142723490,3	K562	blood:
4	chr3:142442417..142444804-chr3:142718685..142721847,4	K562	blood:
5	chr3:142677697..142680198-chr3:142718866..142721394,3	K562	blood:
6	chr3:142676730..142680278-chr3:142717890..142721546,3	K562	blood:
7	chr3:142442669..142444351-chr3:142720029..142722522,2	MCF-7	breast:
8	chr3:142718594..142721364-chr3:142729652..142733132,4	MCF-7	breast:
9	chr3:142719836..142721441-chr3:142742742..142745727,2	K562	blood:
10	chr3:142297403..142299294-chr3:142720282..142722143,3	MCF-7	breast:
11	chr3:142681877..142683958-chr3:142718843..142721049,2	K562	blood:
12	chr3:142295918..142298932-chr3:142719049..142722504,4	MCF-7	breast:

Variant related genes	Relation type
U2SURP	TF binding region
ENSG00000268129	TF binding region
U2SURP	CpG island
ENSG00000268129	CpG island
ENSG00000163714	Chromatin interaction
ENSG00000242390	Chromatin interaction
ENSG00000241592	Chromatin interaction
ENSG00000163710	Chromatin interaction
ENSG00000175054	Chromatin interaction
ENSG00000144935	Chromatin interaction
ENSG00000188582	Chromatin interaction
ENSG00000241570	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr3:142718200-142725000	Active TSS	K562	blood
2	chr3:142718400-142721800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:142718400-142722000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:142718400-142722400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:142718600-142722200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:142718600-142722200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:142718800-142721800	Active TSS	Left Ventricle	heart
8	chr3:142718800-142722200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:142718800-142722400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr3:142718800-142722400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:142718800-142722400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr3:142718800-142723000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr3:142719000-142721400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:142719000-142721800	Active TSS	Right Atrium	heart
15	chr3:142719000-142722000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr3:142719000-142722200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:142719000-142722200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:142719000-142722200	Active TSS	HSMMtube	muscle
19	chr3:142719000-142722800	Active TSS	A549	lung
20	chr3:142719200-142721600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr3:142719200-142721800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr3:142719200-142721800	Active TSS	Ovary	ovary
23	chr3:142719200-142722000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:142719200-142722000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:142719200-142722200	Active TSS	NHLF	lung
26	chr3:142719200-142723400	Active TSS	GM12878-XiMat	blood
27	chr3:142719400-142721400	Active TSS	Fetal Heart	heart
28	chr3:142719400-142721600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:142719400-142721600	Active TSS	Gastric	stomach
30	chr3:142719400-142721600	Active TSS	Lung	lung
31	chr3:142719400-142721800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:142719400-142721800	Active TSS	Esophagus	oesophagus
33	chr3:142719400-142722000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:142719400-142722000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:142719400-142722000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr3:142719400-142722000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:142719400-142722000	Active TSS	Fetal Intestine Large	intestine
38	chr3:142719400-142722200	Active TSS	Hela-S3	cervix
39	chr3:142719400-142722200	Active TSS	NHDF-Ad	bronchial
40	chr3:142719400-142722400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr3:142719400-142722400	Active TSS	NHEK	skin
42	chr3:142719600-142721000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:142719600-142721000	Active TSS	Fetal Brain Female	brain
44	chr3:142719600-142721000	Active TSS	Stomach Smooth Muscle	stomach
45	chr3:142719600-142721200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:142719600-142721200	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr3:142719600-142721200	Active TSS	Brain Substantia Nigra	brain
48	chr3:142719600-142721200	Active TSS	Duodenum Mucosa	Duodenum
49	chr3:142719600-142721200	Active TSS	Rectal Smooth Muscle	rectum
50	chr3:142719600-142721400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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