Variant report

Variant	rs759347
Chromosome Location	chr2:10343419-10343420
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10339278..10341450-chr2:10342848..10344717,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1861234	0.87[EUR][1000 genomes]
rs4669555	0.86[EUR][1000 genomes]
rs4669557	0.86[EUR][1000 genomes]
rs6741629	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748762	0.83[EUR][1000 genomes]
rs7587087	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs759348	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs887962	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]

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	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv34981	chr2:10341468-10384302	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv35171	chr2:10341468-10384302	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10290200-10351400	Strong transcription	Dnd41	blood
2	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:10333000-10347000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:10335200-10348600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:10336800-10344600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:10337200-10349600	Weak transcription	Spleen	Spleen
7	chr2:10338600-10351200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:10338800-10344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:10339200-10345400	Weak transcription	Fetal Thymus	thymus
10	chr2:10339200-10345600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:10339400-10350600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:10340000-10344000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:10340400-10344400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:10341800-10354400	Weak transcription	HepG2	liver
16	chr2:10342200-10348600	Weak transcription	A549	lung
17	chr2:10342400-10343600	Enhancers	Fetal Stomach	stomach
18	chr2:10342600-10343600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:10342600-10343600	Enhancers	HSMMtube	muscle
20	chr2:10342600-10344200	Enhancers	Fetal Muscle Leg	muscle
21	chr2:10342800-10343600	Enhancers	Right Ventricle	heart
22	chr2:10342800-10343600	Enhancers	HSMM	muscle
23	chr2:10342800-10343600	Enhancers	Osteobl	bone
24	chr2:10342800-10344600	Enhancers	Fetal Brain Female	brain
25	chr2:10342800-10345400	Enhancers	Fetal Brain Male	brain
26	chr2:10343000-10343600	Enhancers	Placenta	Placenta
27	chr2:10343000-10343800	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:10343000-10344600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:10343000-10345200	Enhancers	NHDF-Ad	bronchial
30	chr2:10343000-10345600	Strong transcription	Thymus	Thymus
31	chr2:10343400-10343600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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