Variant report

Variant	rs537925282
Chromosome Location	chr1:113347182-113347183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113258353..113266082-chr1:113344715..113349789,9	MCF-7	breast:
2	chr1:113280037..113281182-chr1:113346502..113347495,4	MCF-7	breast:
3	chr1:113258153..113259710-chr1:113345919..113347682,21	MCF-7	breast:
4	chr1:113260737..113262292-chr1:113346514..113347895,8	MCF-7	breast:
5	chr1:113260993..113261954-chr1:113346492..113347443,7	K562	blood:
6	chr1:113257528..113259830-chr1:113345553..113348526,2	K562	blood:
7	chr1:113258243..113259603-chr1:113346569..113347471,7	MCF-7	breast:
8	chr1:113270002..113271018-chr1:113346519..113347901,8	MCF-7	breast:
9	chr1:113261041..113262045-chr1:113346518..113347739,14	MCF-7	breast:
10	chr1:113257560..113260668-chr1:113344360..113350242,8	MCF-7	breast:
11	chr1:113258018..113259770-chr1:113346059..113348138,22	K562	blood:
12	chr1:113346242..113347922-chr1:113394008..113395856,2	MCF-7	breast:
13	chr1:113259850..113261663-chr1:113346224..113348160,2	K562	blood:
14	chr1:113279985..113280850-chr1:113346538..113347427,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261595	Chromatin interaction
ENSG00000184599	Chromatin interaction
ENSG00000155367	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	esv18511	chr1:113246318-113350775	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
13	nsv999123	chr1:113297485-113352172	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv872160	chr1:113301657-113409751	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv547567	chr1:113313563-113384015	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	esv2762185	chr1:113346108-113351401	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113325600-113350800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:113335400-113349800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:113337200-113351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:113337600-113350000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:113338800-113349000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:113342000-113361800	Weak transcription	Right Atrium	heart
7	chr1:113345200-113347400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:113346400-113347200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:113346400-113347200	Enhancers	Fetal Intestine Small	intestine
10	chr1:113346400-113347200	Enhancers	Stomach Mucosa	stomach
11	chr1:113346400-113347400	Enhancers	HepG2	liver
12	chr1:113346400-113347600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:113346400-113349000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:113346600-113347200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:113346600-113347200	Enhancers	Liver	Liver
16	chr1:113346600-113347200	Enhancers	Fetal Intestine Large	intestine
17	chr1:113346600-113348000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:113346800-113347400	Enhancers	Fetal Muscle Leg	muscle
19	chr1:113346800-113347400	Enhancers	Pancreas	Pancrea
20	chr1:113346800-113348800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:113346800-113349800	Weak transcription	Fetal Lung	lung
22	chr1:113347000-113347600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:113347000-113348000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:113347000-113348200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:113347000-113349000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:113347000-113349800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:113347000-113350000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:113347000-113350000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:113347000-113352200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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