Variant report

Variant	rs9210
Chromosome Location	chr15:75128501-75128502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75121112..75122910-chr15:75127756..75129272,2	K562	blood:
2	chr15:75073170..75080511-chr15:75126432..75130376,7	MCF-7	breast:
3	chr15:75072297..75075822-chr15:75126474..75129319,4	MCF-7	breast:
4	chr15:75126584..75129177-chr15:75226754..75229328,2	K562	blood:
5	chr15:75078437..75080336-chr15:75126473..75129418,2	MCF-7	breast:
6	chr15:75126292..75128912-chr15:75197042..75200289,3	MCF-7	breast:
7	chr15:75126464..75129704-chr15:75315770..75318038,3	MCF-7	breast:
8	chr15:75091213..75094124-chr15:75128179..75130318,2	K562	blood:
9	chr15:75108356..75114001-chr15:75126388..75130558,9	MCF-7	breast:
10	chr15:75069556..75072054-chr15:75126670..75129004,2	MCF-7	breast:
11	chr15:75126658..75129435-chr15:75182077..75185005,3	MCF-7	breast:
12	chr15:75052602..75054359-chr15:75126408..75128956,2	K562	blood:
13	chr15:75109188..75110335-chr15:75127274..75128567,6	MCF-7	breast:
14	chr15:75127647..75129550-chr15:75238824..75240978,2	MCF-7	breast:
15	chr15:75127539..75130871-chr15:75182053..75185205,4	MCF-7	breast:
16	chr15:75126901..75129959-chr15:75191253..75194368,3	K562	blood:
17	chr15:75126973..75129678-chr15:75164205..75165961,3	MCF-7	breast:
18	chr15:75126487..75129177-chr15:75225564..75229328,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178761	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000140497	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000260824	Chromatin interaction
ENSG00000261606	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11634474	0.90[CEU][hapmap];0.81[YRI][hapmap]
rs12442901	0.81[CEU][hapmap];0.95[GIH][hapmap];0.84[MKK][hapmap]
rs1378938	0.86[CEU][hapmap];0.97[GIH][hapmap]
rs1543927	0.82[CEU][hapmap]
rs1869959	0.95[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap]
rs2168519	0.86[CEU][hapmap];0.95[GIH][hapmap]
rs2301249	0.86[CEU][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.82[MKK][hapmap]
rs2305668	0.89[JPT][hapmap]
rs4886406	0.82[CEU][hapmap]
rs4886615	1.00[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs4886619	0.82[CEU][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];0.82[TSI][hapmap]
rs4886629	0.86[CEU][hapmap]
rs4886633	0.83[CEU][hapmap]
rs6495126	0.83[CEU][hapmap];0.86[GIH][hapmap]
rs6495127	0.83[CEU][hapmap];0.86[GIH][hapmap]
rs7085	0.86[CEU][hapmap];0.97[GIH][hapmap];0.84[LWK][hapmap]
rs7162232	0.91[CEU][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap]
rs7176022	0.91[CEU][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap]
rs7180484	0.81[ASW][hapmap];0.91[CEU][hapmap];0.97[GIH][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];0.82[TSI][hapmap]
rs7497201	0.83[CEU][hapmap];0.86[GIH][hapmap]
rs8031937	0.83[CEU][hapmap];0.86[GIH][hapmap]
rs8033381	0.86[CEU][hapmap];0.95[GIH][hapmap];0.82[MKK][hapmap]
rs8042694	0.86[GIH][hapmap]
rs936226	0.86[CEU][hapmap]
rs936228	0.87[ASW][hapmap];0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap]
rs936229	0.87[ASW][hapmap];0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap]
rs936230	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap]

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	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9210	MPI	cis	parietal	SCAN
rs9210	SCAMP5	cis	cerebellum	SCAN
rs9210	ULK3	cis	Whole Blood	GTEx
rs9210	SCAMP2	cis	parietal	SCAN
rs9210	MPI	cis	lymphoblastoid	seeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75121400-75132000	Weak transcription	A549	lung
2	chr15:75121400-75134600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:75121800-75134600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:75122600-75131200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:75122800-75128800	Weak transcription	Fetal Thymus	thymus
6	chr15:75123200-75129200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:75123200-75130600	Weak transcription	Osteobl	bone
8	chr15:75123600-75129000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:75123600-75129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:75123800-75129000	Weak transcription	Brain Substantia Nigra	brain
11	chr15:75123800-75129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:75123800-75134200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr15:75123800-75134200	Weak transcription	Primary B cells from cord blood	blood
14	chr15:75123800-75134400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:75123800-75134400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:75123800-75134400	Weak transcription	HSMM	muscle
17	chr15:75124000-75134400	Weak transcription	HSMMtube	muscle
18	chr15:75124200-75128800	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:75124200-75132200	Weak transcription	K562	blood
20	chr15:75124400-75134400	Weak transcription	Fetal Lung	lung
21	chr15:75124600-75128600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:75124600-75129000	Weak transcription	Left Ventricle	heart
23	chr15:75124800-75134400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:75124800-75134400	Weak transcription	Psoas Muscle	Psoas
25	chr15:75125000-75134000	Weak transcription	Stomach Mucosa	stomach
26	chr15:75125000-75134600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:75125200-75134800	Weak transcription	Aorta	Aorta
28	chr15:75126000-75128600	Weak transcription	Colonic Mucosa	Colon
29	chr15:75126000-75128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:75126200-75128600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr15:75126200-75128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:75126200-75128800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:75126200-75132800	Weak transcription	Hela-S3	cervix
34	chr15:75126200-75134400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:75126400-75129000	Weak transcription	NHEK	skin
36	chr15:75126400-75129800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr15:75126400-75132800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr15:75126600-75134200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:75126600-75134400	Weak transcription	GM12878-XiMat	blood
40	chr15:75126800-75134600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr15:75127200-75130400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:75127200-75133400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:75127400-75132000	Strong transcription	Fetal Intestine Small	intestine
44	chr15:75127600-75128600	Weak transcription	Fetal Kidney	kidney
45	chr15:75127600-75131200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:75127600-75132400	Strong transcription	Fetal Brain Female	brain
47	chr15:75127600-75133600	Strong transcription	Brain Germinal Matrix	brain
48	chr15:75127800-75129400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:75127800-75129400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:75127800-75131000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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