Variant report

Variant	rs4756130
Chromosome Location	chr11:34311637-34311638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34309410..34312078-chr11:34318122..34319816,2	K562	blood:
2	chr11:34308939..34311768-chr11:34379486..34381875,2	MCF-7	breast:
3	chr11:34309640..34312411-chr11:34560642..34563280,2	K562	blood:
4	chr11:34276940..34279788-chr11:34309195..34311703,2	MCF-7	breast:
5	chr11:34310476..34312267-chr11:34326192..34328969,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2231828	0.82[ASW][hapmap]
rs494024	0.82[ASW][hapmap]
rs499406	0.82[ASW][hapmap]
rs533425	0.82[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4756130	SNORD86	trans	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34297000-34321000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:34297200-34324200	Weak transcription	Aorta	Aorta
3	chr11:34297600-34312600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:34300800-34314000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:34303400-34323600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:34305800-34320400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:34306600-34312000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:34306800-34318000	Weak transcription	A549	lung
9	chr11:34306800-34321000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:34307000-34312400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:34307200-34312200	Weak transcription	Fetal Brain Female	brain
12	chr11:34307400-34312600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:34307400-34313800	Weak transcription	Psoas Muscle	Psoas
14	chr11:34309800-34312000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:34310400-34312000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:34310600-34316600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:34311000-34312400	Weak transcription	Brain Anterior Caudate	brain
18	chr11:34311200-34324400	Weak transcription	HepG2	liver
19	chr11:34311400-34312600	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:34311400-34312600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:34311400-34312600	Weak transcription	Left Ventricle	heart
22	chr11:34311400-34314000	Weak transcription	Right Ventricle	heart
23	chr11:34311400-34321000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:34311600-34311800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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