Variant report

Variant	rs530766670
Chromosome Location	chr1:62647484-62647485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv461650	chr1:62542717-62657530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv546417	chr1:62542717-62657530	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv870842	chr1:62644118-62679202	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv546418	chr1:62646182-62656809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62636200-62649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:62638200-62649000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:62640600-62651200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:62645000-62649000	Weak transcription	Colonic Mucosa	Colon
5	chr1:62645600-62649400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:62645800-62647600	Enhancers	Placenta	Placenta
7	chr1:62645800-62648200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:62646000-62648200	Enhancers	Fetal Muscle Leg	muscle
9	chr1:62646000-62649400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:62646200-62647600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:62646200-62649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:62646400-62648800	Weak transcription	Fetal Lung	lung
13	chr1:62646400-62649000	Weak transcription	Fetal Kidney	kidney
14	chr1:62646600-62660400	Weak transcription	Right Atrium	heart
15	chr1:62646800-62649600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:62647000-62647600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:62647000-62647800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:62647000-62648200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:62647000-62649200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:62647200-62647600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:62647200-62647600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:62647200-62647800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:62647400-62647600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:62647400-62647600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr1:62647400-62647600	Enhancers	Fetal Stomach	stomach
26	chr1:62647400-62647800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:62647400-62648400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:62647400-62648400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:62647400-62648600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:62647400-62649400	Enhancers	Fetal Brain Female	brain
31	chr1:62647400-62649600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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