Variant report

Variant	rs2735950
Chromosome Location	chr8:20109354-20109355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20103827..20105570-chr8:20109022..20111621,2	MCF-7	breast:
2	chr8:20100650..20102578-chr8:20107776..20109639,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10086005	0.85[ASN][1000 genomes]
rs1390940	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1982959	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2453910	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4921698	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4922142	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4922143	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs903998	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs904001	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs904002	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	nsv520882	chr8:20102006-20109492	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2735950	LOC729082	trans	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20094000-20109800	Weak transcription	Thymus	Thymus
2	chr8:20094800-20111800	Weak transcription	Fetal Thymus	thymus
3	chr8:20096000-20109800	Weak transcription	Primary T cells from cord blood	blood
4	chr8:20096800-20119400	Weak transcription	Right Atrium	heart
5	chr8:20097200-20111800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:20097400-20112400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:20097600-20109600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:20097600-20110800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:20097600-20112000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:20102400-20118800	Weak transcription	NH-A	brain
11	chr8:20102800-20110400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:20103000-20111600	Strong transcription	Fetal Stomach	stomach
13	chr8:20103000-20113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:20103000-20119400	Strong transcription	Dnd41	blood
15	chr8:20103200-20112600	Strong transcription	Brain Germinal Matrix	brain
16	chr8:20103200-20112800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:20103400-20113000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:20103600-20113000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:20103800-20110200	Weak transcription	Adipose Nuclei	Adipose
20	chr8:20104000-20111200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:20104200-20118800	Weak transcription	Fetal Intestine Large	intestine
22	chr8:20104600-20111600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:20104800-20109400	Weak transcription	Spleen	Spleen
24	chr8:20104800-20110200	Weak transcription	Gastric	stomach
25	chr8:20105400-20111800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:20105400-20114800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:20105800-20110400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:20105800-20111800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:20106000-20114200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:20106200-20111600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:20106200-20119800	Weak transcription	Osteobl	bone
32	chr8:20106400-20111000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:20106400-20113000	Strong transcription	Fetal Brain Female	brain
34	chr8:20106600-20110600	Weak transcription	Right Ventricle	heart
35	chr8:20106800-20110400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:20107200-20111000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:20107200-20112800	Strong transcription	HSMMtube	muscle
38	chr8:20107600-20109400	Weak transcription	Lung	lung
39	chr8:20107600-20110600	Strong transcription	HSMM	muscle
40	chr8:20107800-20109400	Weak transcription	NHLF	lung
41	chr8:20107800-20111800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:20108000-20109800	Weak transcription	Placenta	Placenta
43	chr8:20108000-20110000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:20108200-20111200	Strong transcription	Esophagus	oesophagus
45	chr8:20108400-20109800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr8:20108400-20111400	Strong transcription	Fetal Muscle Leg	muscle
47	chr8:20108400-20125200	Weak transcription	Fetal Intestine Small	intestine
48	chr8:20108600-20113000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:20108800-20109600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr8:20108800-20109800	Enhancers	Primary T cells fromperipheralblood	blood

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