Variant report

Variant	rs476506
Chromosome Location	chr13:30138036-30138037
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30137163..30140178-chr13:30141147..30143927,3	K562	blood:
2	chr13:30137385..30139177-chr13:30144253..30145908,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1018679	0.89[CHB][hapmap]
rs11839516	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12428026	0.81[CHB][hapmap]
rs166828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1877463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2150688	0.80[CHB][hapmap];0.81[MEX][hapmap]
rs2150690	0.81[CHB][hapmap];0.90[MEX][hapmap]
rs2236499	0.90[CHB][hapmap]
rs2277451	0.80[CHB][hapmap]
rs2802249	0.81[CHB][hapmap]
rs280922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs280923	1.00[CHB][hapmap]
rs280924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs280925	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs280926	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs280928	0.88[EUR][1000 genomes]
rs280930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs280933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs280934	1.00[CHB][hapmap]
rs280936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2989594	0.81[CHB][hapmap];0.81[CHD][hapmap];0.95[MEX][hapmap]
rs3011605	0.81[CHB][hapmap];0.81[CHD][hapmap];0.95[MEX][hapmap]
rs3783257	0.81[CHB][hapmap]
rs3783259	0.81[CHB][hapmap]
rs3783260	0.81[CHB][hapmap]
rs3783262	0.81[CHB][hapmap]
rs3783263	0.81[CHB][hapmap]
rs3803266	0.85[CHB][hapmap]
rs3825536	0.81[CHB][hapmap]
rs485359	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs532568	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs537151	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs579451	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs617892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6490409	0.81[CHB][hapmap]
rs7338758	0.85[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs7997827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs914362	0.81[CHB][hapmap]
rs9508499	0.81[CHD][hapmap]
rs9550482	0.90[CHB][hapmap]
rs9550483	0.82[ASN][1000 genomes]
rs9551696	0.86[CHB][hapmap]
rs9551699	0.86[CHB][hapmap]
rs9551700	0.86[CHB][hapmap];0.92[CHD][hapmap];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs476506	C13orf36	trans	brain	seeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:30113200-30141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:30123000-30138600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:30125000-30147400	Weak transcription	A549	lung
5	chr13:30125800-30142200	Weak transcription	K562	blood
6	chr13:30125800-30143200	Weak transcription	Gastric	stomach
7	chr13:30126000-30138400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
9	chr13:30126200-30147200	Weak transcription	Spleen	Spleen
10	chr13:30127400-30142200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:30127600-30144000	Weak transcription	Fetal Intestine Small	intestine
12	chr13:30127600-30146200	Weak transcription	Right Ventricle	heart
13	chr13:30127600-30151400	Weak transcription	Aorta	Aorta
14	chr13:30127600-30156400	Weak transcription	Lung	lung
15	chr13:30127800-30143200	Weak transcription	Fetal Thymus	thymus
16	chr13:30127800-30147400	Weak transcription	Fetal Intestine Large	intestine
17	chr13:30127800-30147600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr13:30128000-30139400	Weak transcription	Left Ventricle	heart
19	chr13:30128000-30143600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr13:30128000-30146800	Weak transcription	HSMMtube	muscle
21	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr13:30128200-30138200	Weak transcription	Fetal Muscle Leg	muscle
23	chr13:30128200-30143600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:30128200-30146000	Weak transcription	Hela-S3	cervix
25	chr13:30128200-30147400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr13:30128200-30147400	Weak transcription	Thymus	Thymus
27	chr13:30128400-30138400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:30128400-30143400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr13:30128600-30143400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr13:30128600-30146600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr13:30128600-30147400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr13:30128600-30161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr13:30128800-30139400	Weak transcription	Esophagus	oesophagus
34	chr13:30128800-30143400	Weak transcription	Dnd41	blood
35	chr13:30128800-30155800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
37	chr13:30129000-30143200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:30131400-30147800	Weak transcription	Fetal Brain Female	brain
39	chr13:30131800-30147600	Weak transcription	GM12878-XiMat	blood
40	chr13:30135400-30138800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr13:30135400-30139400	Enhancers	NHDF-Ad	bronchial
42	chr13:30135400-30140000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr13:30135400-30140200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr13:30135800-30138800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:30135800-30140200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr13:30136000-30138400	Enhancers	Osteobl	bone
47	chr13:30136000-30138800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr13:30136000-30139000	Enhancers	NH-A	brain
49	chr13:30136000-30140000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr13:30136000-30140200	Enhancers	HUES64 Cell Line	embryonic stem cell

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