Variant report

Variant	rs60738706
Chromosome Location	chr1:185070829-185070830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185062925..185066801-chr1:185070030..185072676,4	K562	blood:
2	chr1:185068561..185071467-chr1:185072156..185075364,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs41529047	1.00[AMR][1000 genomes]
rs55756628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56110440	1.00[AMR][1000 genomes]
rs57853329	1.00[AMR][1000 genomes]
rs74134412	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134422	1.00[AMR][1000 genomes]
rs74134423	1.00[AMR][1000 genomes]
rs74134425	1.00[AMR][1000 genomes]
rs74134426	1.00[AMR][1000 genomes]
rs74134427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
3	chr1:185030200-185076600	Weak transcription	Gastric	stomach
4	chr1:185034800-185077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:185052000-185076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:185052400-185074800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:185052800-185076600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:185054200-185073200	Weak transcription	Brain Anterior Caudate	brain
9	chr1:185054200-185073800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:185054400-185101800	Weak transcription	A549	lung
11	chr1:185054800-185072400	Weak transcription	HepG2	liver
12	chr1:185055200-185076600	Weak transcription	Lung	lung
13	chr1:185055400-185096200	Weak transcription	Hela-S3	cervix
14	chr1:185056000-185076800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:185056200-185072400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:185056200-185074200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:185056400-185071400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:185056400-185073800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:185056400-185074000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:185056600-185074000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:185056600-185077000	Weak transcription	Thymus	Thymus
23	chr1:185057200-185073400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:185057200-185074000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:185057600-185094600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:185058200-185074800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:185058600-185072800	Weak transcription	NHLF	lung
28	chr1:185058600-185089000	Weak transcription	Ovary	ovary
29	chr1:185058800-185075800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:185058800-185075800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:185058800-185093600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:185059000-185073400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:185059000-185076200	Weak transcription	Brain Germinal Matrix	brain
34	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:185060800-185074000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:185063000-185076600	Weak transcription	Fetal Brain Female	brain
37	chr1:185064600-185073400	Weak transcription	Left Ventricle	heart
38	chr1:185064600-185075200	Weak transcription	Psoas Muscle	Psoas
39	chr1:185064800-185071000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:185064800-185073400	Weak transcription	Fetal Kidney	kidney
41	chr1:185065800-185088600	Weak transcription	NHDF-Ad	bronchial
42	chr1:185066000-185074200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:185066600-185073200	Weak transcription	HMEC	breast
44	chr1:185066800-185071800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:185067200-185074400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr1:185067200-185075200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:185067600-185071400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:185067600-185078400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:185067800-185071000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:185067800-185071000	Weak transcription	Fetal Heart	heart

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