Variant report

Variant	rs564746235
Chromosome Location	chr1:95120426-95120427
allele	A/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	CEBPB	chr1:95119504-95120465	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:95119270-95120477	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF7L2	chr1:95119412-95120477	PANC-1	pancreas:	n/a	n/a
4	RFX5	chr1:95119530-95120475	Hela-S3	cervix:	n/a	n/a
5	RCOR1	chr1:95119020-95120573	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
KATNBL1P2	TF binding region

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	chr1:95118800-95120800	Enhancers	Fetal Intestine Large	intestine
6	chr1:95118800-95120800	Enhancers	NHEK	skin
7	chr1:95118800-95121200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:95118800-95121200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:95118800-95121200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:95119000-95120600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:95119000-95120600	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:95119000-95120600	Enhancers	Fetal Intestine Small	intestine
13	chr1:95119000-95120800	Enhancers	Pancreas	Pancrea
14	chr1:95119000-95120800	Enhancers	HepG2	liver
15	chr1:95119000-95121000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:95119000-95121000	Enhancers	HMEC	breast
17	chr1:95119000-95125000	Enhancers	Fetal Heart	heart
18	chr1:95119400-95120600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:95119400-95123400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:95119400-95123400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:95119400-95123400	Weak transcription	Lung	lung
22	chr1:95119600-95123400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:95119600-95123400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:95119600-95125200	Enhancers	Hela-S3	cervix
25	chr1:95119600-95126400	Weak transcription	Left Ventricle	heart
26	chr1:95119800-95122600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:95119800-95123400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:95119800-95123400	Weak transcription	Aorta	Aorta
29	chr1:95119800-95123400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:95119800-95123400	Weak transcription	Right Atrium	heart
31	chr1:95120000-95122200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:95120000-95122400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:95120000-95122400	Weak transcription	NH-A	brain
34	chr1:95120000-95123400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:95120000-95123400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:95120000-95123400	Weak transcription	Gastric	stomach
37	chr1:95120000-95123400	Weak transcription	Stomach Mucosa	stomach
38	chr1:95120000-95123600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:95120000-95123800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:95120000-95126000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:95120000-95126600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:95120000-95126600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:95120200-95120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:95120200-95120600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:95120200-95120600	Weak transcription	Ovary	ovary
46	chr1:95120200-95122400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:95120200-95122800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:95120400-95120600	Enhancers	NHLF	lung
49	chr1:95120400-95121000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:95120400-95121600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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