Variant report

Variant	rs1473676
Chromosome Location	chr1:186817928-186817929
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186817347..186820172-chr1:186930546..186933374,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10752976	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651333	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6696406	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][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	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186800200-186827800	Weak transcription	NHEK	skin
2	chr1:186801000-186818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:186808600-186828200	Weak transcription	Pancreas	Pancrea
4	chr1:186808600-186830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:186810400-186824800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:186815200-186823400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:186815200-186844800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:186815400-186818600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:186815400-186818800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:186816200-186820000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:186816400-186818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:186816600-186818000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:186816600-186818400	Enhancers	Brain Hippocampus Middle	brain
14	chr1:186816800-186818800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:186816800-186819000	Enhancers	Stomach Mucosa	stomach
16	chr1:186816800-186819200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:186817000-186818400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:186817000-186819200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:186817200-186818200	Flanking Active TSS	A549	lung
20	chr1:186817200-186818600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:186817200-186818800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:186817200-186819200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:186817200-186819200	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:186817400-186818000	Enhancers	Fetal Intestine Large	intestine
25	chr1:186817400-186818000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:186817400-186818400	Weak transcription	Gastric	stomach
27	chr1:186817400-186818400	Weak transcription	Small Intestine	intestine
28	chr1:186817400-186819600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:186817600-186818000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:186817600-186818000	Weak transcription	GM12878-XiMat	blood
31	chr1:186817600-186818600	Weak transcription	Fetal Intestine Small	intestine
32	chr1:186817600-186824600	Weak transcription	Adipose Nuclei	Adipose
33	chr1:186817800-186818000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:186817800-186818800	Enhancers	HMEC	breast
35	chr1:186817800-186819800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:186817800-186839000	Weak transcription	Hela-S3	cervix

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