Variant report

Variant	rs753813
Chromosome Location	chr5:36648328-36648329
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	chr5:36647082..36650179-chr5:36652257..36655654,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs448281	0.83[GIH][hapmap]
rs56019002	1.00[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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv969921	chr5:36645147-36696229	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs753813	SLC1A3	cis	cerebellum	SCAN
rs753813	AGXT2	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36616800-36651200	Weak transcription	Psoas Muscle	Psoas
2	chr5:36631000-36654400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:36632200-36654800	Weak transcription	Fetal Brain Female	brain
4	chr5:36632600-36651800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:36632600-36654600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:36634000-36652200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:36635600-36654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:36635800-36652200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:36637200-36655200	Weak transcription	Hela-S3	cervix
10	chr5:36637400-36654600	Weak transcription	Left Ventricle	heart
11	chr5:36637800-36648400	Enhancers	Fetal Heart	heart
12	chr5:36638600-36652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:36638600-36652200	Weak transcription	NHEK	skin
14	chr5:36638600-36654600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:36638800-36654400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:36639400-36650200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:36639600-36651800	Weak transcription	Adipose Nuclei	Adipose
18	chr5:36639800-36651400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:36639800-36656400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:36640400-36651200	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:36640800-36650000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:36641600-36649800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:36642200-36649600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:36645200-36649400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:36645200-36653000	Weak transcription	Right Ventricle	heart
26	chr5:36645200-36654400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:36645600-36648600	Weak transcription	Fetal Intestine Large	intestine
28	chr5:36646800-36650600	Weak transcription	Brain Anterior Caudate	brain
29	chr5:36646800-36651800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:36646800-36654600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:36646800-36654600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:36646800-36655600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:36647000-36648400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:36647000-36651000	Weak transcription	NHDF-Ad	bronchial
35	chr5:36647200-36652000	Weak transcription	HSMMtube	muscle
36	chr5:36647200-36653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:36647200-36657600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:36647400-36648600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:36647400-36651600	Weak transcription	Brain Angular Gyrus	brain
40	chr5:36647600-36648400	Weak transcription	HSMM	muscle
41	chr5:36647600-36651400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:36647800-36649600	Weak transcription	Brain Substantia Nigra	brain
43	chr5:36647800-36651800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:36647800-36651800	Weak transcription	Osteobl	bone
45	chr5:36648200-36658000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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