Variant report

Variant	rs10853093
Chromosome Location	chr17:46153747-46153748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46124283..46126892-chr17:46151852..46155065,3	K562	blood:
2	chr17:46143868..46147268-chr17:46149730..46155245,6	K562	blood:
3	chr17:46151387..46154136-chr17:46155917..46157796,2	K562	blood:
4	chr17:46124623..46127890-chr17:46150973..46153766,5	MCF-7	breast:
5	chr17:46151032..46153908-chr17:46162151..46164546,2	MCF-7	breast:
6	chr17:46152778..46154641-chr17:46183608..46186327,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000002919	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11079817	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs11656941	1.00[CHB][hapmap]
rs11870317	0.82[EUR][1000 genomes]
rs1349676	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1808209	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188268	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1910574	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs208007	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs208013	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs208017	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs208018	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs2123342	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs2158341	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2325886	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs2924255	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs2924256	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs2924258	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs2938471	1.00[JPT][hapmap]
rs2938480	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs2938482	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs3792693	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs4794427	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs4794488	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs5016303	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs595874	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs6504100	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs6504101	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs6504113	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs7208796	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs7225140	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs8066529	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs8071262	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs8077814	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs8079982	0.81[EUR][1000 genomes]
rs8182234	0.81[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9905460	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	esv1804681	chr17:46144628-46168544	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10853093	AARSD1	cis	parietal	SCAN
rs10853093	BECN1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46130400-46154600	Strong transcription	Primary T cells from cord blood	blood
2	chr17:46131200-46154200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:46132600-46155200	Strong transcription	Fetal Thymus	thymus
6	chr17:46133000-46154600	Strong transcription	Fetal Brain Female	brain
7	chr17:46133000-46155200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:46133200-46157200	Strong transcription	Fetal Stomach	stomach
9	chr17:46133400-46154400	Strong transcription	Brain Germinal Matrix	brain
10	chr17:46133400-46154400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr17:46133400-46154600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:46133400-46155200	Strong transcription	Dnd41	blood
13	chr17:46133600-46154400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:46133600-46154400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:46133600-46154600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:46134000-46154200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr17:46134400-46154400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr17:46135400-46155400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:46137400-46155200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr17:46137800-46154600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr17:46138000-46154400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr17:46139200-46162600	Weak transcription	Small Intestine	intestine
23	chr17:46139800-46162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:46139800-46163600	Weak transcription	Esophagus	oesophagus
25	chr17:46140000-46153800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:46140000-46162400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr17:46140200-46156400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr17:46140800-46163200	Weak transcription	Colonic Mucosa	Colon
29	chr17:46142200-46154400	Strong transcription	Fetal Muscle Leg	muscle
30	chr17:46142600-46162600	Weak transcription	Fetal Heart	heart
31	chr17:46143600-46157400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:46143800-46154400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr17:46143800-46163200	Weak transcription	Aorta	Aorta
34	chr17:46144200-46154400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr17:46144200-46157000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:46144400-46154400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:46144400-46154400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr17:46144400-46154600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr17:46144400-46163000	Weak transcription	Psoas Muscle	Psoas
40	chr17:46144600-46154400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:46144600-46154400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:46144600-46154600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:46144600-46154600	Strong transcription	Fetal Lung	lung
44	chr17:46144800-46177800	Weak transcription	Right Ventricle	heart
45	chr17:46145000-46154600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:46145800-46154400	Strong transcription	Placenta	Placenta
47	chr17:46145800-46154400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr17:46145800-46154400	Strong transcription	HUVEC	blood vessel
49	chr17:46145800-46154600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr17:46145800-46155200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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