Variant report

Variant	rs9944249
Chromosome Location	chr15:41847176-41847177
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41836226..41837883-chr15:41844452..41847283,2	MCF-7	breast:
2	chr15:41841534..41844151-chr15:41845202..41848536,3	K562	blood:
3	chr15:41845325..41848797-chr15:41849286..41852428,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103932	Chromatin interaction
ENSG00000092445	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11070335	0.81[EUR][1000 genomes]
rs11636126	0.81[EUR][1000 genomes]
rs11855581	0.81[EUR][1000 genomes]
rs1200353	1.00[CHD][hapmap]
rs12595022	0.81[EUR][1000 genomes]
rs12900977	0.81[EUR][1000 genomes]
rs12906257	0.81[EUR][1000 genomes]
rs12909551	0.82[EUR][1000 genomes]
rs1473781	0.86[CHB][hapmap];0.96[CHD][hapmap]
rs2012453	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2297379	0.85[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.84[EUR][1000 genomes]
rs2297381	0.81[EUR][1000 genomes]
rs2412620	0.86[CHB][hapmap]
rs34104452	0.80[EUR][1000 genomes]
rs4573907	0.82[EUR][1000 genomes]
rs7167667	0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs721772	0.81[EUR][1000 genomes]
rs8028439	0.86[EUR][1000 genomes]
rs8040440	0.81[EUR][1000 genomes]
rs8040522	0.84[EUR][1000 genomes]
rs9744415	0.86[EUR][1000 genomes]

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs9944249	RPAP1	cis	lymphoblastoid	seeQTL
rs9944249	JMJD7-PLA2G4B	cis	parietal	SCAN
rs9944249	RPAP1	cis	parietal	SCAN
rs9944249	CAPN3	cis	parietal	SCAN
rs9944249	LTK	cis	multi-tissue	Pritchard
rs9944249	RPAP1	cis	Esophagus Muscularis	GTEx
rs9944249	RPAP1	cis	Adipose Subcutaneous	GTEx
rs9944249	LTK	cis	lung	GTEx
rs9944249	TYRO3	cis	lung	GTEx
rs9944249	RAD51	cis	parietal	SCAN
rs9944249	RPAP1	cis	Artery Tibial	GTEx
rs9944249	MAPKBP1	cis	cerebellum	SCAN
rs9944249	SPTBN5	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41837200-41850000	Weak transcription	Brain Anterior Caudate	brain
2	chr15:41837200-41850200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:41845600-41847400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:41845800-41847400	Enhancers	HSMM	muscle
5	chr15:41845800-41850600	Enhancers	HUVEC	blood vessel
6	chr15:41846000-41847200	Weak transcription	Hela-S3	cervix
7	chr15:41846000-41850000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:41846200-41850000	Weak transcription	Osteobl	bone
9	chr15:41846400-41850000	Weak transcription	HSMMtube	muscle
10	chr15:41846600-41847400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr15:41846600-41847400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:41846600-41847600	Enhancers	Adipose Nuclei	Adipose
13	chr15:41846600-41847600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr15:41846800-41847200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:41846800-41847200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:41846800-41847400	Enhancers	Duodenum Mucosa	Duodenum
17	chr15:41846800-41847400	Enhancers	Fetal Muscle Leg	muscle
18	chr15:41846800-41847400	Enhancers	Placenta	Placenta
19	chr15:41846800-41847600	Enhancers	Fetal Intestine Large	intestine
20	chr15:41846800-41847600	Enhancers	Fetal Intestine Small	intestine
21	chr15:41847000-41847200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:41847000-41847200	Enhancers	Primary hematopoietic stem cells	blood
23	chr15:41847000-41847200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:41847000-41847200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:41847000-41847200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr15:41847000-41847400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:41847000-41847400	Bivalent Enhancer	HepG2	liver
28	chr15:41847000-41847600	Enhancers	Spleen	Spleen
29	chr15:41847000-41848200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:41847000-41848200	Weak transcription	K562	blood
31	chr15:41847000-41850000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:41847000-41850000	Weak transcription	Left Ventricle	heart

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