Variant report

Variant	rs2243860
Chromosome Location	chr1:61757477-61757478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61733525..61735391-chr1:61756905..61759108,2	K562	blood:
2	chr1:61755399..61757717-chr1:61760353..61762667,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1041674	0.83[CEU][hapmap];0.84[CHB][hapmap];0.92[EUR][1000 genomes]
rs10489912	1.00[CEU][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1414265	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1932004	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2782547	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2806429	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2806434	0.83[EUR][1000 genomes]
rs2806435	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs2970457	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61744600-61798600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61748800-61763200	Weak transcription	Liver	Liver
3	chr1:61751400-61759000	Weak transcription	Fetal Stomach	stomach
4	chr1:61751400-61767400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:61751800-61762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:61752400-61758800	Weak transcription	Fetal Heart	heart
7	chr1:61753000-61758400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:61753000-61759000	Weak transcription	Fetal Brain Female	brain
9	chr1:61753600-61758600	Weak transcription	A549	lung
10	chr1:61753800-61764600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:61753800-61765200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:61754000-61758200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:61754000-61758600	Weak transcription	Adipose Nuclei	Adipose
14	chr1:61754000-61758600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:61754000-61758800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:61754000-61759400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:61754000-61760200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:61754000-61760400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:61754400-61757800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:61754400-61758200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:61754400-61758200	Weak transcription	HMEC	breast
22	chr1:61754400-61758600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:61754600-61758200	Weak transcription	NHEK	skin
24	chr1:61754800-61763000	Weak transcription	Pancreas	Pancrea
25	chr1:61755000-61758400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:61755000-61760400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:61755000-61760600	Weak transcription	Lung	lung
28	chr1:61755600-61757600	Weak transcription	Aorta	Aorta
29	chr1:61755600-61758400	Weak transcription	Right Atrium	heart
30	chr1:61755600-61758600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:61755600-61760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:61755600-61764800	Weak transcription	K562	blood
33	chr1:61755600-61784000	Weak transcription	Esophagus	oesophagus
34	chr1:61756000-61768400	Enhancers	HepG2	liver
35	chr1:61756400-61758400	Weak transcription	Brain Angular Gyrus	brain
36	chr1:61756400-61758400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:61756400-61758600	Weak transcription	Brain Anterior Caudate	brain
38	chr1:61756600-61758400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:61756600-61758400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:61756600-61758600	Weak transcription	Right Ventricle	heart
41	chr1:61756600-61758600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:61756800-61758400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:61756800-61758400	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:61756800-61758800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:61756800-61762600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:61757000-61758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:61757000-61758400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:61757000-61758600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:61757000-61758600	Weak transcription	Psoas Muscle	Psoas
50	chr1:61757000-61760400	Weak transcription	H1 Cell Line	embryonic stem cell

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