Variant report

Variant	rs12060650
Chromosome Location	chr1:44980628-44980629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:44971909..44974855-chr1:44979477..44982336,4	K562	blood:
2	chr1:44968762..44970353-chr1:44978276..44981177,2	K562	blood:
3	chr1:44975740..44979460-chr1:44980605..44983213,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12069261	1.00[YRI][hapmap]
rs57310131	1.00[AMR][1000 genomes]
rs58691502	1.00[AMR][1000 genomes]
rs6659673	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	esv1005212	chr1:44972573-44985674	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44973800-44983000	Enhancers	Brain Substantia Nigra	brain
2	chr1:44975400-44981600	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:44975600-44983000	Enhancers	Brain Hippocampus Middle	brain
4	chr1:44975600-44983200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr1:44976400-44985000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:44977800-44983000	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:44978200-44980800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:44978400-44983800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:44978600-44985000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:44978600-44985000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:44978800-44984000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:44978800-44988400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:44979000-44984000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:44979000-44989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:44979600-44980800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:44979600-44981000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:44979600-44981200	Enhancers	HepG2	liver
18	chr1:44979800-44981400	Enhancers	Brain Angular Gyrus	brain
19	chr1:44980000-44982200	Enhancers	NHEK	skin
20	chr1:44980200-44981000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:44980200-44981800	Enhancers	HMEC	breast
22	chr1:44980400-44981800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:44980400-44981800	Enhancers	A549	lung
24	chr1:44980600-44980800	Enhancers	Brain Anterior Caudate	brain
25	chr1:44980600-44981000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:44980600-44981000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:44980600-44981600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:44980600-44982600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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