Variant report

Variant	rs11187596
Chromosome Location	chr10:95457992-95457993
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	chr10:95455877..95459997-chr10:95462740..95465254,3	MCF-7	breast:
2	chr10:95457992..95460332-chr10:95460869..95462430,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148690	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10444062	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882299	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs10882302	0.86[EUR][1000 genomes]
rs10882303	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs10882319	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11187580	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11187582	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11187583	0.81[CEU][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs11187584	0.88[EUR][1000 genomes]
rs11187585	0.88[EUR][1000 genomes]
rs11187599	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11187616	0.81[ASN][1000 genomes]
rs11187620	0.93[ASN][1000 genomes]
rs11187644	0.92[ASN][1000 genomes]
rs1998840	1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45468996	0.88[EUR][1000 genomes]
rs7094280	0.93[ASN][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	nsv1050705	chr10:95384527-95469255	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv540747	chr10:95384527-95469255	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv3346948	chr10:95421957-95532625	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv522686	chr10:95440286-95471338	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11187596	NUDT9P1	cis	parietal	SCAN
rs11187596	CYP2C8	cis	parietal	SCAN
rs11187596	FRA10AC1	cis	cerebellum	SCAN
rs11187596	FRA10AC1	cis	Artery Tibial	GTEx
rs11187596	FRA10AC1	cis	Nerve Tibial	GTEx
rs11187596	FRA10AC1	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95417800-95461400	Weak transcription	Esophagus	oesophagus
2	chr10:95418400-95461400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:95418600-95460800	Weak transcription	Aorta	Aorta
4	chr10:95418600-95462000	Weak transcription	Spleen	Spleen
5	chr10:95420400-95458600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:95425200-95461400	Weak transcription	K562	blood
7	chr10:95426000-95461400	Weak transcription	Colonic Mucosa	Colon
8	chr10:95429000-95460600	Weak transcription	Small Intestine	intestine
9	chr10:95430600-95461200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:95432400-95461200	Weak transcription	Stomach Mucosa	stomach
11	chr10:95438600-95461200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr10:95438600-95461400	Weak transcription	Gastric	stomach
13	chr10:95439200-95460600	Weak transcription	NHLF	lung
14	chr10:95439200-95461400	Weak transcription	Lung	lung
15	chr10:95439600-95458600	Weak transcription	Psoas Muscle	Psoas
16	chr10:95439600-95461400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:95439800-95461000	Weak transcription	Fetal Heart	heart
18	chr10:95441200-95459200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:95443200-95459600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:95443400-95459400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:95446600-95459600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:95446800-95460200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr10:95447200-95459600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:95447200-95460000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:95449200-95459400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:95449200-95459400	Strong transcription	Fetal Intestine Large	intestine
27	chr10:95449200-95459600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:95449200-95459600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr10:95449200-95459800	Strong transcription	Liver	Liver
30	chr10:95449200-95460200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr10:95449200-95461400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:95449400-95459600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr10:95449400-95459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:95449400-95459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:95449400-95459800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr10:95449400-95461200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr10:95449600-95458200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr10:95449600-95458800	Strong transcription	Dnd41	blood
39	chr10:95449600-95459400	Strong transcription	Placenta	Placenta
40	chr10:95450400-95459200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:95450400-95459600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr10:95450600-95458600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:95450800-95459400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:95450800-95459600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr10:95450800-95459600	Strong transcription	Osteobl	bone
46	chr10:95451000-95459400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr10:95451000-95459400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr10:95451000-95459600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:95451000-95459600	Strong transcription	Fetal Muscle Leg	muscle
50	chr10:95451200-95459400	Strong transcription	Duodenum Mucosa	Duodenum

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