Variant report

Variant	rs181105250
Chromosome Location	chr1:95120051-95120052
allele	G/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	TBP	chr1:95119503-95120214	Hela-S3	cervix:	n/a	n/a
2	FOSL1	chr1:95119215-95120425	HCT-116	colon:	n/a	n/a
3	CEBPB	chr1:95119504-95120465	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:95119270-95120477	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF7L2	chr1:95119412-95120477	PANC-1	pancreas:	n/a	n/a
6	SRF	chr1:95119131-95120094	HCT-116	colon:	n/a	chr1:95119724-95119739
7	SMC3	chr1:95119306-95120302	Hela-S3	cervix:	n/a	n/a
8	EP300	chr1:95119514-95120409	Hela-S3	cervix:	n/a	n/a
9	TEAD4	chr1:95119505-95120055	ECC-1	luminal epithelium:	n/a	chr1:95119769-95119778
10	FOSL1	chr1:95119484-95120072	HCT-116	colon:	n/a	n/a
11	JUND	chr1:95119481-95120380	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr1:95119585-95120175	Hela-S3	cervix:	n/a	n/a
13	TCF7L2	chr1:95119040-95120194	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr1:95119474-95120308	Hela-S3	cervix:	n/a	n/a
15	RFX5	chr1:95119530-95120475	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:95119619-95120093	MCF10A-Er-Src	breast:	n/a	n/a
17	JUND	chr1:95119420-95120140	HCT-116	colon:	n/a	n/a
18	SRF	chr1:95119360-95120139	HCT-116	colon:	n/a	chr1:95119724-95119739
19	RCOR1	chr1:95119020-95120573	Hela-S3	cervix:	n/a	n/a
20	SP1	chr1:95119423-95120194	HCT-116	colon:	n/a	n/a
21	FOS	chr1:95119585-95120120	MCF10A-Er-Src	breast:	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:54 , 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	chr1:95119000-95120400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:95119000-95120400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:95119000-95120400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:95119000-95120400	Enhancers	Colon Smooth Muscle	Colon
15	chr1:95119000-95120600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:95119000-95120600	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:95119000-95120600	Enhancers	Fetal Intestine Small	intestine
18	chr1:95119000-95120800	Enhancers	Pancreas	Pancrea
19	chr1:95119000-95120800	Enhancers	HepG2	liver
20	chr1:95119000-95121000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:95119000-95121000	Enhancers	HMEC	breast
22	chr1:95119000-95125000	Enhancers	Fetal Heart	heart
23	chr1:95119200-95120200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:95119400-95120600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr1:95119400-95123400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:95119400-95123400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:95119400-95123400	Weak transcription	Lung	lung
28	chr1:95119600-95120200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:95119600-95123400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:95119600-95123400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:95119600-95125200	Enhancers	Hela-S3	cervix
32	chr1:95119600-95126400	Weak transcription	Left Ventricle	heart
33	chr1:95119800-95120200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:95119800-95120200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:95119800-95122600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:95119800-95123400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:95119800-95123400	Weak transcription	Aorta	Aorta
38	chr1:95119800-95123400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:95119800-95123400	Weak transcription	Right Atrium	heart
40	chr1:95120000-95120400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:95120000-95120400	Enhancers	A549	lung
42	chr1:95120000-95120400	Weak transcription	NHLF	lung
43	chr1:95120000-95122200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:95120000-95122400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:95120000-95122400	Weak transcription	NH-A	brain
46	chr1:95120000-95123400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:95120000-95123400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:95120000-95123400	Weak transcription	Gastric	stomach
49	chr1:95120000-95123400	Weak transcription	Stomach Mucosa	stomach
50	chr1:95120000-95123600	Weak transcription	Muscle Satellite Cultured Cells	--

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