Variant report

Variant	rs58353849
Chromosome Location	chr1:212300597-212300598
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212299758..212302513-chr1:212303234..212305200,2	K562	blood:
2	chr1:212299137..212301997-chr1:212313974..212315746,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56232484	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58417851	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6540716	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212274200-212301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212274400-212308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:212281200-212308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:212285000-212303200	Weak transcription	Fetal Stomach	stomach
5	chr1:212285600-212311200	Weak transcription	Hela-S3	cervix
6	chr1:212287400-212320600	Weak transcription	A549	lung
7	chr1:212292600-212314600	Weak transcription	Thymus	Thymus
8	chr1:212293200-212313200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:212295400-212303800	Weak transcription	K562	blood
10	chr1:212298000-212302400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:212298200-212307200	Strong transcription	Dnd41	blood
12	chr1:212298400-212301000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:212298600-212303400	Weak transcription	Fetal Intestine Small	intestine
14	chr1:212298600-212305600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:212298600-212306200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:212298600-212312200	Weak transcription	Gastric	stomach
17	chr1:212298800-212300600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:212298800-212301200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:212298800-212308200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:212299000-212305200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:212299000-212308000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:212299000-212313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:212299200-212302000	Weak transcription	Primary T cells from cord blood	blood
24	chr1:212299200-212305000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:212299200-212305000	Weak transcription	Fetal Thymus	thymus
26	chr1:212299200-212307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:212299200-212314200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:212299400-212301400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:212299600-212300800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:212299600-212300800	Enhancers	Spleen	Spleen
31	chr1:212299600-212301000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:212299600-212301200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:212299600-212301200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:212299800-212300800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:212299800-212301000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:212299800-212301000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:212299800-212308600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:212300000-212308400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:212300000-212320800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:212300400-212300800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr1:212300400-212300800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:212300400-212300800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:212300400-212300800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:212300400-212301000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:212300400-212301000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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