Variant report

Variant	rs146446343
Chromosome Location	chr1:95119896-95119897
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	TBP	chr1:95119503-95120214	Hela-S3	cervix:	n/a	n/a
2	FOSL2	chr1:95119569-95119916	HepG2	liver:	n/a	n/a
3	FOSL1	chr1:95119215-95120425	HCT-116	colon:	n/a	n/a
4	CEBPB	chr1:95119504-95120465	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr1:95119505-95119959	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:95119270-95120477	MCF10A-Er-Src	breast:	n/a	n/a
7	MAZ	chr1:95119543-95119943	Hela-S3	cervix:	n/a	n/a
8	FOS	chr1:95119600-95119942	MCF10A-Er-Src	breast:	n/a	n/a
9	TAF1	chr1:95119567-95119963	Hela-S3	cervix:	n/a	n/a
10	FOSL2	chr1:95119489-95119945	A549	lung:	n/a	n/a
11	TCF7L2	chr1:95119412-95120477	PANC-1	pancreas:	n/a	n/a
12	SRF	chr1:95119131-95120094	HCT-116	colon:	n/a	chr1:95119724-95119739
13	SMC3	chr1:95119306-95120302	Hela-S3	cervix:	n/a	n/a
14	EP300	chr1:95119514-95120409	Hela-S3	cervix:	n/a	n/a
15	TEAD4	chr1:95119505-95120055	ECC-1	luminal epithelium:	n/a	chr1:95119769-95119778
16	GTF2F1	chr1:95119095-95120039	Hela-S3	cervix:	n/a	chr1:95119301-95119312
17	JUN	chr1:95119559-95120036	Hela-S3	cervix:	n/a	n/a
18	FOSL1	chr1:95119484-95120072	HCT-116	colon:	n/a	n/a
19	TCF7L2	chr1:95119185-95119983	HCT-116	colon:	n/a	n/a
20	JUND	chr1:95119481-95120380	Hela-S3	cervix:	n/a	n/a
21	STAT3	chr1:95119585-95120175	Hela-S3	cervix:	n/a	n/a
22	TCF7L2	chr1:95119040-95120194	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr1:95119344-95119986	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr1:95119474-95120308	Hela-S3	cervix:	n/a	n/a
25	STAT3	chr1:95119722-95119902	MCF10A-Er-Src	breast:	n/a	n/a
26	TEAD4	chr1:95119534-95119985	ECC-1	luminal epithelium:	n/a	chr1:95119769-95119778
27	FOS	chr1:95119533-95119968	Hela-S3	cervix:	n/a	n/a
28	RFX5	chr1:95119530-95120475	Hela-S3	cervix:	n/a	n/a
29	SRF	chr1:95119493-95119960	ECC-1	luminal epithelium:	n/a	chr1:95119724-95119739
30	TEAD4	chr1:95119525-95119978	HCT-116	colon:	n/a	chr1:95119769-95119778
31	POLR2A	chr1:95119619-95120093	MCF10A-Er-Src	breast:	n/a	n/a
32	JUND	chr1:95119464-95120050	HCT-116	colon:	n/a	n/a
33	POLR2A	chr1:95119610-95119971	HCT-116	colon:	n/a	n/a
34	POLR2A	chr1:95119619-95120040	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:95119675-95119963	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr1:95119540-95119985	Hela-S3	cervix:	n/a	n/a
37	FOS	chr1:95119543-95119989	MCF10A-Er-Src	breast:	n/a	n/a
38	JUND	chr1:95119420-95120140	HCT-116	colon:	n/a	n/a
39	STAT3	chr1:95119681-95119962	MCF10A-Er-Src	breast:	n/a	n/a
40	MAX	chr1:95119485-95119980	Hela-S3	cervix:	n/a	n/a
41	SP1	chr1:95119491-95120042	HCT-116	colon:	n/a	n/a
42	SRF	chr1:95119360-95120139	HCT-116	colon:	n/a	chr1:95119724-95119739
43	STAT3	chr1:95119692-95119979	MCF10A-Er-Src	breast:	n/a	n/a
44	TEAD4	chr1:95119520-95119928	HepG2	liver:	n/a	chr1:95119769-95119778
45	MYC	chr1:95119769-95119922	MCF10A-Er-Src	breast:	n/a	n/a
46	RCOR1	chr1:95119020-95120573	Hela-S3	cervix:	n/a	n/a
47	USF2	chr1:95119405-95119945	Hela-S3	cervix:	n/a	n/a
48	FOS	chr1:95119585-95119931	MCF10A-Er-Src	breast:	n/a	n/a
49	MAFK	chr1:95119501-95119988	Hela-S3	cervix:	n/a	chr1:95119654-95119665
50	SP1	chr1:95119423-95120194	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95006986..95007963-chr1:95119179..95120118,2	Hela-S3	cervix:

Variant related genes	Relation type
KATNBL1P2	TF binding region
ENSG00000117525	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	esv2755232	chr1:95119790-95151813	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv432509	chr1:95119790-95151813	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756851	chr1:95119790-95158603	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758950	chr1:95119790-95158603	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95114600-95123400	Weak transcription	NHDF-Ad	bronchial
2	chr1:95114600-95124000	Weak transcription	Small Intestine	intestine
3	chr1:95114600-95126600	Weak transcription	Esophagus	oesophagus
4	chr1:95114800-95123800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:95118800-95120200	Enhancers	Ovary	ovary
6	chr1:95118800-95120800	Enhancers	Fetal Intestine Large	intestine
7	chr1:95118800-95120800	Enhancers	NHEK	skin
8	chr1:95118800-95121200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:95118800-95121200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:95118800-95121200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:95119000-95120000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:95119000-95120000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:95119000-95120000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:95119000-95120000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:95119000-95120000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:95119000-95120000	Enhancers	Gastric	stomach
17	chr1:95119000-95120000	Enhancers	Stomach Mucosa	stomach
18	chr1:95119000-95120000	Enhancers	HSMM	muscle
19	chr1:95119000-95120000	Enhancers	HUVEC	blood vessel
20	chr1:95119000-95120000	Enhancers	NH-A	brain
21	chr1:95119000-95120000	Enhancers	NHLF	lung
22	chr1:95119000-95120400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:95119000-95120400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:95119000-95120400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:95119000-95120400	Enhancers	Colon Smooth Muscle	Colon
26	chr1:95119000-95120600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:95119000-95120600	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:95119000-95120600	Enhancers	Fetal Intestine Small	intestine
29	chr1:95119000-95120800	Enhancers	Pancreas	Pancrea
30	chr1:95119000-95120800	Enhancers	HepG2	liver
31	chr1:95119000-95121000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:95119000-95121000	Enhancers	HMEC	breast
33	chr1:95119000-95125000	Enhancers	Fetal Heart	heart
34	chr1:95119200-95120000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:95119200-95120000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:95119200-95120000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr1:95119200-95120000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr1:95119200-95120200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:95119400-95120000	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:95119400-95120600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr1:95119400-95123400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:95119400-95123400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:95119400-95123400	Weak transcription	Lung	lung
44	chr1:95119600-95120000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:95119600-95120200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:95119600-95123400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:95119600-95123400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:95119600-95125200	Enhancers	Hela-S3	cervix
49	chr1:95119600-95126400	Weak transcription	Left Ventricle	heart
50	chr1:95119800-95120000	Flanking Active TSS	A549	lung

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