Variant report

Variant	rs2288609
Chromosome Location	chr15:34034446-34034447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34030460..34032334-chr15:34033934..34035565,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12438127	0.85[CHD][hapmap]
rs12439461	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12901888	0.85[CHD][hapmap]
rs1864335	0.85[CHD][hapmap]
rs2163141	0.85[CHD][hapmap]
rs4145827	1.00[CHD][hapmap]
rs4779649	0.85[CHD][hapmap]
rs8038562	1.00[CHD][hapmap]
rs965471	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv34037	chr15:33732616-34049083	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33993000-34034600	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:34024200-34034800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:34025400-34035200	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:34030400-34038000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:34030600-34038200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:34030600-34038200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:34030800-34034600	Weak transcription	Brain Substantia Nigra	brain
8	chr15:34030800-34035200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:34030800-34038200	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:34030800-34040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:34031000-34034600	Strong transcription	Aorta	Aorta
12	chr15:34031800-34034800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:34032400-34041000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:34033000-34035400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:34034000-34034600	Weak transcription	Brain Anterior Caudate	brain
16	chr15:34034000-34034800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:34034200-34034800	Enhancers	Brain Germinal Matrix	brain
18	chr15:34034200-34035400	Enhancers	Fetal Brain Male	brain
19	chr15:34034200-34035400	Enhancers	Psoas Muscle	Psoas
20	chr15:34034200-34035600	Enhancers	Fetal Stomach	stomach
21	chr15:34034200-34035600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr15:34034200-34035600	Enhancers	HSMMtube	muscle
23	chr15:34034200-34035800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr15:34034400-34034800	Enhancers	Fetal Lung	lung
25	chr15:34034400-34035000	Enhancers	Rectal Smooth Muscle	rectum
26	chr15:34034400-34035000	Enhancers	Stomach Smooth Muscle	stomach
27	chr15:34034400-34035400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:34034400-34035400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr15:34034400-34035400	Enhancers	Fetal Brain Female	brain
30	chr15:34034400-34035600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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