Variant report

Variant	rs11125327
Chromosome Location	chr2:21483047-21483048
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21454261..21455870-chr2:21482924..21484730,2	K562	blood:
2	chr2:21466677..21468249-chr2:21482318..21484176,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17042055	0.92[ASN][1000 genomes]
rs1877060	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4665252	0.82[EUR][1000 genomes]
rs6714773	0.92[ASN][1000 genomes]
rs6751642	0.96[ASN][1000 genomes]
rs870638	0.88[EUR][1000 genomes];0.95[ASN][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	nsv519215	chr2:21473751-21502727	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
2	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21473200-21488800	Enhancers	Brain Hippocampus Middle	brain
2	chr2:21473600-21487400	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:21475200-21484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:21476000-21488000	Enhancers	Brain Anterior Caudate	brain
5	chr2:21479000-21490400	Weak transcription	Spleen	Spleen
6	chr2:21479400-21494800	Enhancers	Brain Substantia Nigra	brain
7	chr2:21479600-21489200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:21479800-21484600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:21481000-21483800	Enhancers	Brain Angular Gyrus	brain
10	chr2:21481200-21483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:21481200-21484600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:21481200-21484600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:21481400-21483200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:21481400-21484400	Weak transcription	Fetal Stomach	stomach
15	chr2:21481400-21487400	Weak transcription	Aorta	Aorta
16	chr2:21481600-21490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:21482000-21483800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:21482200-21484200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:21482200-21487200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:21482400-21483200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:21482400-21483800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:21482600-21483200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:21482600-21483600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:21482600-21483800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:21482600-21483800	Enhancers	Brain Germinal Matrix	brain
26	chr2:21482800-21483200	Enhancers	K562	blood
27	chr2:21482800-21483400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:21482800-21483800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:21483000-21483400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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