Variant report

Variant	rs12745353
Chromosome Location	chr1:61804181-61804182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61802472..61805415-chr1:61917120..61919669,2	MCF-7	breast:
2	chr1:61679578..61681382-chr1:61802246..61804281,2	MCF-7	breast:
3	chr1:61803556..61804528-chr1:61918731..61919655,3	MCF-7	breast:
4	chr1:61515264..61516149-chr1:61803341..61804328,3	MCF-7	breast:
5	chr1:61444776..61445376-chr1:61804008..61805059,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12735438	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12743816	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067774	0.96[AMR][1000 genomes]
rs34094870	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155705	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35083921	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35688418	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66536513	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657128	0.91[AMR][1000 genomes]
rs6704173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67885818	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71641729	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7544213	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545738	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555828	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1014023	chr1:61788310-61859074	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv534981	chr1:61788310-61859074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61786000-61813600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:61790000-61805400	Weak transcription	Lung	lung
3	chr1:61796200-61805400	Weak transcription	Esophagus	oesophagus
4	chr1:61798600-61805000	Enhancers	Fetal Heart	heart
5	chr1:61800200-61804400	Enhancers	Brain Germinal Matrix	brain
6	chr1:61801000-61805400	Weak transcription	Pancreas	Pancrea
7	chr1:61801000-61818600	Weak transcription	K562	blood
8	chr1:61801200-61824600	Weak transcription	Gastric	stomach
9	chr1:61802200-61804400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:61802200-61804400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:61802200-61804400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:61802200-61804600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:61802200-61804800	Enhancers	Fetal Stomach	stomach
14	chr1:61802200-61805000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:61802200-61805200	Enhancers	Fetal Lung	lung
16	chr1:61802200-61805800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:61802400-61804200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:61802400-61804200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:61802400-61804400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:61802400-61804400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:61802400-61804400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:61802400-61804400	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:61802600-61804200	Enhancers	Fetal Muscle Leg	muscle
24	chr1:61802600-61804400	Enhancers	Colon Smooth Muscle	Colon
25	chr1:61802600-61804600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:61802800-61804200	Bivalent Enhancer	NH-A	brain
27	chr1:61802800-61804400	Enhancers	Placenta	Placenta
28	chr1:61802800-61804400	Enhancers	Ovary	ovary
29	chr1:61802800-61804600	Enhancers	Brain Angular Gyrus	brain
30	chr1:61802800-61804600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:61802800-61804600	Enhancers	Fetal Kidney	kidney
32	chr1:61803000-61805000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:61803000-61816200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:61803200-61804200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr1:61803400-61804200	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr1:61803400-61804200	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr1:61803400-61804600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:61803400-61804600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr1:61803400-61804600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr1:61803400-61804800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:61803400-61804800	Flanking Active TSS	HepG2	liver
42	chr1:61803400-61804800	Flanking Active TSS	HUVEC	blood vessel
43	chr1:61803400-61805000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:61803600-61804200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:61803600-61804200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:61803600-61804200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:61803600-61804200	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:61803600-61804200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:61803600-61804200	Flanking Active TSS	NHEK	skin
50	chr1:61803600-61804400	Enhancers	Small Intestine	intestine

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