Variant report

Variant	rs11134253
Chromosome Location	chr5:7706053-7706054
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	chr5:7705933..7708628-chr5:7714945..7716464,2	K562	blood:

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

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

rs_ID	r²[population]
rs10474818	0.88[AFR][1000 genomes]
rs11134255	0.88[AFR][1000 genomes]
rs13168000	0.93[AFR][1000 genomes]
rs4235584	1.00[ASW][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs4701792	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs9313202	0.89[YRI][hapmap];0.88[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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr5:7664600-7709200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:7678000-7709200	Weak transcription	Aorta	Aorta
3	chr5:7688000-7743200	Weak transcription	Brain Substantia Nigra	brain
4	chr5:7690600-7718600	Weak transcription	Brain Anterior Caudate	brain
5	chr5:7691200-7719000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:7691200-7722200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:7692000-7709200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:7696800-7716200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:7698600-7709400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:7702200-7707000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:7704400-7723400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:7704600-7722200	Weak transcription	Fetal Intestine Small	intestine
13	chr5:7705000-7706200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:7705000-7706600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:7705200-7706200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:7705400-7706200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:7705600-7707000	Enhancers	Fetal Brain Male	brain
18	chr5:7705600-7709000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:7705600-7709200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:7705600-7715800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:7705800-7706800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:7705800-7706800	Weak transcription	Ovary	ovary
23	chr5:7705800-7708600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:7705800-7708800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:7705800-7709200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:7705800-7721200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:7705800-7721600	Weak transcription	Psoas Muscle	Psoas
28	chr5:7705800-7734600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:7705800-7745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:7705800-7755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:7706000-7706200	Enhancers	Brain Angular Gyrus	brain
32	chr5:7706000-7709000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:7706000-7726600	Weak transcription	Fetal Stomach	stomach

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