Variant report

Variant	rs12061799
Chromosome Location	chr1:185450099-185450100
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	chr1:185448123..185450451-chr1:185453336..185455003,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10159387	1.00[EUR][1000 genomes]
rs11803475	1.00[EUR][1000 genomes]
rs55668166	1.00[EUR][1000 genomes]
rs55722516	1.00[EUR][1000 genomes]
rs55749359	1.00[EUR][1000 genomes]
rs56982777	1.00[EUR][1000 genomes]
rs57855737	1.00[EUR][1000 genomes]
rs58168300	1.00[EUR][1000 genomes]
rs58963489	1.00[EUR][1000 genomes]
rs59444721	1.00[EUR][1000 genomes]
rs60416788	1.00[EUR][1000 genomes]
rs6666363	1.00[AMR][1000 genomes]
rs6673367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73052265	1.00[EUR][1000 genomes]
rs73052267	1.00[EUR][1000 genomes]
rs73052272	1.00[EUR][1000 genomes]
rs7550745	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185426200-185453000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:185447000-185450600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:185447600-185452600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:185447600-185452800	Weak transcription	Brain Germinal Matrix	brain
5	chr1:185447800-185452400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:185447800-185452800	Weak transcription	Fetal Brain Female	brain
7	chr1:185448000-185453200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:185448200-185452800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:185448200-185458000	Weak transcription	Stomach Mucosa	stomach
10	chr1:185448600-185450200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:185449200-185450200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:185449200-185452800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:185449200-185455000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:185449400-185452800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:185449400-185452800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:185449400-185452800	Weak transcription	Fetal Intestine Large	intestine
17	chr1:185449400-185453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:185449400-185457600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:185449600-185450400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:185449800-185452800	Weak transcription	Psoas Muscle	Psoas
21	chr1:185449800-185453000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:185450000-185450200	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:185450000-185452600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:185450000-185452800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:185450000-185452800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:185450000-185452800	Weak transcription	Brain Hippocampus Middle	brain

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