Variant report

Variant	rs11636147
Chromosome Location	chr15:40721128-40721129
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40713682..40716417-chr15:40720904..40723012,2	MCF-7	breast:
2	chr15:40715093..40719455-chr15:40720778..40725123,5	K562	blood:
3	chr15:40720491..40723802-chr15:40727203..40729063,3	MCF-7	breast:
4	chr15:40702365..40704196-chr15:40720889..40723343,2	K562	blood:
5	chr15:40712357..40714224-chr15:40720673..40722209,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128928	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1048163	1.00[JPT][hapmap]
rs11634187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11636097	1.00[JPT][hapmap]
rs11638662	1.00[JPT][hapmap]
rs12905240	0.92[EUR][1000 genomes]
rs12913300	0.89[EUR][1000 genomes]
rs16970633	0.90[CEU][hapmap]
rs17733008	1.00[JPT][hapmap]
rs2018127	1.00[JPT][hapmap]
rs2289327	1.00[JPT][hapmap]
rs2289328	0.90[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35189772	0.96[ASN][1000 genomes]
rs35565646	0.89[EUR][1000 genomes]
rs35777573	0.81[EUR][1000 genomes]
rs3803359	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs3803360	0.88[EUR][1000 genomes]
rs56221586	0.88[EUR][1000 genomes]
rs71472433	0.82[EUR][1000 genomes]
rs8040419	1.00[JPT][hapmap]
rs900054	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs11636147	DISP2	cis	Muscle Skeletal	GTEx
rs11636147	RP11-64K12.4	cis	Esophagus Muscularis	GTEx
rs11636147	DISP2	cis	Esophagus Mucosa	GTEx
rs11636147	RP11-64K12.4	cis	Skin Sun Exposed Lower leg	GTEx
rs11636147	DISP2	cis	Artery Tibial	GTEx
rs11636147	DISP2	cis	lung	GTEx
rs11636147	C15orf57,MRPL42P5	cis	brain	BrainEAC
rs11636147	DISP2	cis	Adipose Subcutaneous	GTEx
rs11636147	DISP2	cis	Skin Sun Exposed Lower leg	GTEx
rs11636147	RP11-64K12.4	cis	Adipose Subcutaneous	GTEx
rs11636147	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs11636147	DISP2	cis	Heart Left Ventricle	GTEx
rs11636147	DISP2	cis	Esophagus Muscularis	GTEx
rs11636147	DISP2	cis	Nerve Tibial	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40705600-40727200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:40708400-40721200	Weak transcription	Fetal Kidney	kidney
3	chr15:40708400-40728000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:40710800-40727000	Weak transcription	Primary T cells from cord blood	blood
5	chr15:40710800-40728000	Weak transcription	Aorta	Aorta
6	chr15:40711000-40721400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:40711000-40722000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:40711000-40724800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:40711800-40726600	Weak transcription	Thymus	Thymus
10	chr15:40714200-40722400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:40714200-40726800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:40714200-40727800	Weak transcription	Brain Angular Gyrus	brain
13	chr15:40714200-40727800	Weak transcription	Esophagus	oesophagus
14	chr15:40714200-40728000	Weak transcription	Brain Substantia Nigra	brain
15	chr15:40714200-40728000	Weak transcription	Right Ventricle	heart
16	chr15:40714400-40721400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:40714400-40722200	Weak transcription	Adipose Nuclei	Adipose
18	chr15:40714400-40722200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:40714400-40722400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:40714400-40722400	Weak transcription	HSMM	muscle
21	chr15:40714400-40725000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:40714400-40726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:40714400-40727800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr15:40714400-40727800	Weak transcription	Right Atrium	heart
25	chr15:40714400-40728000	Weak transcription	Brain Anterior Caudate	brain
26	chr15:40714600-40722800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr15:40714600-40724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:40717200-40723400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr15:40719600-40722400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:40719600-40727600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:40719600-40727800	Weak transcription	Spleen	Spleen
32	chr15:40719600-40728000	Weak transcription	Lung	lung
33	chr15:40719800-40722200	Enhancers	K562	blood
34	chr15:40719800-40722400	Weak transcription	Fetal Intestine Small	intestine
35	chr15:40719800-40725600	Weak transcription	Ovary	ovary
36	chr15:40719800-40727600	Weak transcription	Gastric	stomach
37	chr15:40720400-40722800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr15:40720600-40723000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr15:40720800-40723000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:40721000-40721400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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