Variant report

Variant	rs713503
Chromosome Location	chr11:16999882-16999883
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16997842..17006545-chr11:17033236..17037894,15	MCF-7	breast:
2	chr11:16999432..17001553-chr11:17034557..17036317,2	MCF-7	breast:
3	chr11:16996626..17000145-chr11:17001852..17005291,4	K562	blood:
4	chr11:16999245..17001608-chr11:17002120..17006650,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10832706	0.82[CHB][hapmap]
rs11024098	0.87[LWK][hapmap];0.89[YRI][hapmap]
rs12291049	0.82[CHB][hapmap]
rs3927931	0.81[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs713503	SPTY2D1	cis	cerebellum	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16981800-17002800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:16982200-17003800	Weak transcription	Right Ventricle	heart
3	chr11:16991400-17002800	Weak transcription	Right Atrium	heart
4	chr11:16991800-17001000	Weak transcription	Fetal Kidney	kidney
5	chr11:16991800-17001000	Weak transcription	HepG2	liver
6	chr11:16992000-17001200	Weak transcription	Liver	Liver
7	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
8	chr11:16994200-17000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:16997400-17000000	Enhancers	Brain Hippocampus Middle	brain
10	chr11:16997400-17000600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:16997400-17000800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:16997400-17002000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr11:16997600-17000800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:16997600-17003000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:16997600-17003200	Enhancers	Brain Anterior Caudate	brain
16	chr11:16997600-17004600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:16998000-17000400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:16998000-17002200	Enhancers	Gastric	stomach
19	chr11:16998000-17005000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:16998000-17009000	Enhancers	Stomach Mucosa	stomach
21	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:16998200-17000200	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:16998200-17000400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:16998200-17000800	Enhancers	Brain Substantia Nigra	brain
25	chr11:16998200-17001400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:16998200-17001400	Weak transcription	Lung	lung
27	chr11:16998200-17003200	Weak transcription	Aorta	Aorta
28	chr11:16998400-17000000	Enhancers	Fetal Intestine Large	intestine
29	chr11:16998600-17001400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:16998600-17004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:16998800-17001000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:16998800-17002800	Weak transcription	Fetal Brain Male	brain
33	chr11:16998800-17007800	Genic enhancers	Fetal Intestine Small	intestine
34	chr11:16999000-17000000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr11:16999000-17000000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:16999000-17000400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:16999000-17000400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:16999000-17000400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:16999000-17000400	Enhancers	Duodenum Mucosa	Duodenum
40	chr11:16999000-17003000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:16999200-17000000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:16999200-17000200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:16999200-17000200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:16999200-17000600	Enhancers	Fetal Lung	lung
45	chr11:16999200-17002200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr11:16999400-17000000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr11:16999400-17002800	Weak transcription	Esophagus	oesophagus
48	chr11:16999600-17000000	Enhancers	Brain Germinal Matrix	brain
49	chr11:16999600-17000600	Weak transcription	Pancreas	Pancrea
50	chr11:16999600-17003000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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