Variant report

Variant	rs529073026
Chromosome Location	chr1:62765766-62765767
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	NFIC	chr1:62765292-62765855	ECC-1	luminal epithelium:	n/a	chr1:62765620-62765648
2	KAP1	chr1:62765453-62765879	U2OS	brain:	n/a	n/a
3	MAX	chr1:62765381-62765938	HepG2	liver:	n/a	n/a
4	NFIC	chr1:62765227-62765866	ECC-1	luminal epithelium:	n/a	chr1:62765620-62765648

Variant related genes	Relation type
RNU6-371P	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	nsv431712	chr1:62759369-62766001	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3320078	chr1:62765222-62770871	Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3320079	chr1:62765252-62770865	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv3320077	chr1:62765307-62770822	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv3320080	chr1:62765307-62770822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region	1 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	chr1:62754400-62773400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:62759800-62770800	Enhancers	Fetal Muscle Leg	muscle
3	chr1:62761800-62767200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:62762000-62766000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:62762000-62767000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:62762200-62767200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:62762200-62773200	Weak transcription	Fetal Lung	lung
8	chr1:62763200-62765800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:62764800-62765800	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr1:62764800-62768000	Enhancers	Pancreas	Pancrea
11	chr1:62765000-62765800	Enhancers	Fetal Thymus	thymus
12	chr1:62765000-62765800	Enhancers	Lung	lung
13	chr1:62765000-62765800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:62765000-62765800	Enhancers	Right Atrium	heart
15	chr1:62765000-62765800	Enhancers	Hela-S3	cervix
16	chr1:62765000-62766000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:62765000-62766000	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:62765000-62766200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:62765000-62766200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr1:62765000-62766200	Enhancers	Gastric	stomach
21	chr1:62765000-62766200	Enhancers	HMEC	breast
22	chr1:62765000-62766400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:62765000-62766400	Enhancers	Fetal Kidney	kidney
24	chr1:62765000-62766400	Enhancers	Left Ventricle	heart
25	chr1:62765000-62766400	Enhancers	Stomach Mucosa	stomach
26	chr1:62765000-62766400	Enhancers	HSMM	muscle
27	chr1:62765000-62767000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:62765000-62767600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:62765000-62768000	Enhancers	Fetal Stomach	stomach
30	chr1:62765200-62765800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:62765200-62765800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr1:62765200-62765800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:62765200-62766000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:62765200-62766000	Enhancers	Adipose Nuclei	Adipose
35	chr1:62765200-62766200	Enhancers	Fetal Heart	heart
36	chr1:62765200-62766400	Enhancers	Brain Anterior Caudate	brain
37	chr1:62765200-62766400	Enhancers	HSMMtube	muscle
38	chr1:62765200-62766600	Enhancers	Brain Hippocampus Middle	brain
39	chr1:62765200-62767600	Genic enhancers	HepG2	liver
40	chr1:62765400-62765800	Enhancers	Brain Germinal Matrix	brain
41	chr1:62765400-62766000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:62765400-62766000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:62765600-62765800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:62765600-62765800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:62765600-62765800	Enhancers	Colonic Mucosa	Colon
46	chr1:62765600-62765800	Enhancers	Placenta	Placenta
47	chr1:62765600-62765800	Enhancers	Stomach Smooth Muscle	stomach
48	chr1:62765600-62766000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:62765600-62766000	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:62765600-62766000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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