Variant report

Variant	rs12758810
Chromosome Location	chr1:61912261-61912262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61911471..61913527-chr1:61926774..61929264,2	K562	blood:
2	chr1:61907553..61910063-chr1:61911790..61914135,2	K562	blood:
3	chr1:61908598..61910264-chr1:61911011..61913246,2	MCF-7	breast:
4	chr1:61910005..61912784-chr1:61916999..61919026,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35962776	1.00[AFR][1000 genomes]
rs71641736	1.00[AFR][1000 genomes]

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	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61900000-61914600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:61900000-61918000	Weak transcription	HSMMtube	muscle
3	chr1:61901000-61914600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:61902000-61918800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:61903000-61914800	Weak transcription	Lung	lung
6	chr1:61903000-61915600	Weak transcription	Gastric	stomach
7	chr1:61903000-61928800	Weak transcription	Pancreas	Pancrea
8	chr1:61905800-61918000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:61907800-61917400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:61907800-61918000	Weak transcription	NHLF	lung
11	chr1:61908000-61913200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:61908000-61916000	Weak transcription	Placenta	Placenta
13	chr1:61908000-61919400	Enhancers	Fetal Muscle Leg	muscle
14	chr1:61908000-61920200	Enhancers	Adipose Nuclei	Adipose
15	chr1:61908400-61912600	Enhancers	Fetal Heart	heart
16	chr1:61909000-61912600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:61909000-61915600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:61909000-61920600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:61909400-61916000	Weak transcription	Spleen	Spleen
20	chr1:61909600-61914000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:61909600-61914400	Weak transcription	Aorta	Aorta
22	chr1:61909600-61914800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:61909600-61918000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:61909600-61918400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:61910000-61912800	Enhancers	HUVEC	blood vessel
26	chr1:61910000-61914800	Weak transcription	Fetal Thymus	thymus
27	chr1:61910200-61918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:61910400-61915600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:61910600-61912400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:61910600-61912600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr1:61910600-61913400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:61910800-61912600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:61910800-61912800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:61910800-61915000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:61910800-61915600	Weak transcription	Liver	Liver
36	chr1:61911000-61912600	Enhancers	Stomach Smooth Muscle	stomach
37	chr1:61911200-61912800	Enhancers	A549	lung
38	chr1:61911400-61912600	Enhancers	Brain Anterior Caudate	brain
39	chr1:61911400-61912600	Enhancers	Right Ventricle	heart
40	chr1:61911400-61914200	Weak transcription	NHEK	skin
41	chr1:61911600-61913000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:61911600-61913000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:61911600-61913200	Enhancers	Fetal Lung	lung
44	chr1:61911600-61913600	Enhancers	Right Atrium	heart
45	chr1:61911600-61914600	Enhancers	Fetal Brain Male	brain
46	chr1:61911600-61918800	Enhancers	Brain Hippocampus Middle	brain
47	chr1:61911800-61912400	Enhancers	Ovary	ovary
48	chr1:61911800-61913000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:61911800-61913000	Enhancers	Fetal Brain Female	brain
50	chr1:61911800-61913000	Enhancers	Small Intestine	intestine

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