Variant report

Variant	rs636910
Chromosome Location	chr15:45932871-45932872
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45931689..45934379-chr15:45936432..45937938,2	MCF-7	breast:
2	chr15:45932766..45934482-chr15:45951327..45953164,2	MCF-7	breast:
3	chr15:45931549..45933106-chr15:45935286..45937099,2	K562	blood:
4	chr15:45931592..45934146-chr15:45938709..45942844,4	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12909221	0.81[JPT][hapmap]
rs1816804	0.80[YRI][hapmap]
rs2028590	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2083728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4270120	0.80[YRI][hapmap]
rs4271550	0.80[YRI][hapmap]
rs607541	0.80[YRI][hapmap]
rs626808	0.80[YRI][hapmap]
rs629880	0.80[YRI][hapmap]
rs674953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675413	0.80[YRI][hapmap]
rs8023730	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8023759	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[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	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
4	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs636910	GPR176	cis	cerebellum	SCAN
rs636910	GATM	cis	cerebellum	SCAN
rs636910	RPAP1	cis	cerebellum	SCAN
rs636910	SLC30A4	cis	parietal	SCAN
rs636910	TMEM62	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45927800-45935400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr15:45928200-45934200	Weak transcription	Ovary	ovary
3	chr15:45929000-45939000	Enhancers	Stomach Mucosa	stomach
4	chr15:45929400-45933000	Weak transcription	Spleen	Spleen
5	chr15:45929800-45933000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:45929800-45934000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:45930000-45933200	Enhancers	Esophagus	oesophagus
8	chr15:45930000-45934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:45930000-45937800	Weak transcription	Right Ventricle	heart
10	chr15:45930200-45933000	Enhancers	Hela-S3	cervix
11	chr15:45930200-45933400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:45930200-45933400	Weak transcription	Brain Angular Gyrus	brain
13	chr15:45930200-45933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:45930200-45933600	Weak transcription	Brain Substantia Nigra	brain
15	chr15:45930200-45933800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:45930200-45933800	Weak transcription	Fetal Kidney	kidney
17	chr15:45930200-45933800	Weak transcription	Fetal Lung	lung
18	chr15:45930200-45934200	Weak transcription	Brain Anterior Caudate	brain
19	chr15:45930200-45935800	Enhancers	Fetal Intestine Large	intestine
20	chr15:45930400-45933200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr15:45930400-45933600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr15:45930400-45935200	Enhancers	Colon Smooth Muscle	Colon
23	chr15:45930400-45935400	Enhancers	Fetal Intestine Small	intestine
24	chr15:45930400-45936800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:45930400-45940800	Weak transcription	Fetal Thymus	thymus
26	chr15:45930600-45933600	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:45930600-45934000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:45930600-45934000	Enhancers	NHLF	lung
29	chr15:45930600-45934200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:45930600-45934200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:45930600-45934200	Enhancers	Colonic Mucosa	Colon
32	chr15:45930600-45934800	Enhancers	Small Intestine	intestine
33	chr15:45930600-45940800	Weak transcription	Thymus	Thymus
34	chr15:45930800-45933800	Weak transcription	Placenta	Placenta
35	chr15:45930800-45936800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:45931000-45933800	Genic enhancers	Primary B cells from cord blood	blood
37	chr15:45931000-45936600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:45931000-45938800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr15:45931200-45933600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:45931200-45934200	Weak transcription	Lung	lung
41	chr15:45931400-45933000	Enhancers	HepG2	liver
42	chr15:45931600-45933000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:45931600-45933400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:45931600-45933800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:45931600-45933800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr15:45931600-45934000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:45931600-45936600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:45931800-45933000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:45931800-45933200	Strong transcription	Primary T cells from cord blood	blood
50	chr15:45931800-45933200	Enhancers	NHDF-Ad	bronchial

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