Variant report

Variant	rs4669777
Chromosome Location	chr2:11857590-11857591
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	chr2:11850587..11853159-chr2:11857216..11858736,2	K562	blood:
2	chr2:11850587..11853159-chr2:11857216..11858736,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11889370	0.87[EUR][1000 genomes]
rs12692445	0.93[ASN][1000 genomes]
rs7599540	0.83[AFR][1000 genomes]
rs7602962	0.80[AFR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11852000-11859200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:11852200-11858600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:11852400-11858800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:11852600-11859400	Weak transcription	Brain Substantia Nigra	brain
5	chr2:11852600-11860600	Weak transcription	Esophagus	oesophagus
6	chr2:11852800-11858800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:11852800-11859200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:11854800-11858000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:11855000-11860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:11855400-11857600	Enhancers	Pancreas	Pancrea
11	chr2:11855600-11858000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:11855800-11858200	Bivalent Enhancer	HepG2	liver
13	chr2:11856000-11857600	Enhancers	Adipose Nuclei	Adipose
14	chr2:11856000-11858000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:11856200-11858000	Enhancers	Placenta	Placenta
16	chr2:11856400-11857600	Enhancers	Hela-S3	cervix
17	chr2:11856600-11857600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:11856600-11857600	Bivalent Enhancer	Osteobl	bone
19	chr2:11856600-11859400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:11856600-11860800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:11856800-11857600	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:11856800-11857600	Enhancers	K562	blood
23	chr2:11856800-11857600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:11856800-11859200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:11857000-11857600	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:11857200-11857600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:11857200-11858000	Enhancers	Primary B cells from cord blood	blood
28	chr2:11857400-11857600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:11857400-11857600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:11857400-11857600	Flanking Active TSS	Liver	Liver
31	chr2:11857400-11858600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:11857400-11859000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:11857400-11859400	Weak transcription	Ovary	ovary

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