Variant report

Variant	rs11083620
Chromosome Location	chr19:41948683-41948684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41948653-41948703	NH-A	brain:	n/a
2	chr19:41948653-41948703	HIPEpiC	eye:	n/a
3	chr19:41948653-41948703	GM12892	blood:	n/a
4	chr19:41948653-41948703	HRPEpiC	eye:	n/a
5	chr19:41948653-41948703	NHDF-neo	bronchial:	n/a
6	chr19:41948653-41948703	HRE	kidney:	n/a
7	chr19:41948653-41948703	GM12891	blood:	n/a
8	chr19:41948653-41948703	NB4	blood:	n/a
9	chr19:41948653-41948703	BE2_C	brain:	n/a
10	chr19:41948653-41948703	HAEpiC	amniotic membrane:	n/a
11	chr19:41948653-41948703	HUVEC	blood vessel:	n/a
12	chr19:41948653-41948703	GM06990	blood:	n/a
13	chr19:41948653-41948703	SK-N-SH	brain:	n/a
14	chr19:41948653-41948703	HMEC	breast:	n/a
15	chr19:41948653-41948703	AG04449	skin:	fetal
16	chr19:41948653-41948703	HepG2	liver:	n/a
17	chr19:41948653-41948703	ECC-1	luminal epithelium:	n/a
18	chr19:41948653-41948703	HEEpiC	esophagus:	n/a
19	chr19:41948653-41948703	PrEC	prostate:	n/a
20	chr19:41948653-41948703	AG09309	skin:	n/a
21	chr19:41948653-41948703	IMR90	lung:	fetal
22	chr19:41948653-41948703	HL-60	blood:	n/a
23	chr19:41948653-41948703	ProgFib	skin:	n/a
24	chr19:41948653-41948703	HCM	heart:	n/a
25	chr19:41948653-41948703	SK-N-SH_RA	brain:	n/a
26	chr19:41948653-41948703	LNCaP	prostate:	n/a
27	chr19:41948653-41948703	HCT-116	colon:	n/a
28	chr19:41948653-41948703	BJ	skin:	n/a
29	chr19:41948653-41948703	NT2-D1	testis:	n/a
30	chr19:41948653-41948703	SKMC	muscle:	n/a
31	chr19:41948653-41948703	AG09319	gingival:	n/a
32	chr19:41948653-41948703	H1-hESC	embryonic stem cell:	embryo
33	chr19:41948653-41948703	GM12878	blood:	n/a
34	chr19:41948653-41948703	HNPCEpiC	eye:	n/a
35	chr19:41948653-41948703	HRCEpiC	kidney:	n/a
36	chr19:41948653-41948703	MCF10A-Er-Src	breast:	n/a
37	chr19:41948653-41948703	SK-N-MC	brain:	n/a
38	chr19:41948653-41948703	U87	brain:	n/a
39	chr19:41948653-41948703	HCPEpiC	choroid plexus:	n/a
40	chr19:41948653-41948703	HEK293	kidney:	embryo
41	chr19:41948653-41948703	NHBE	bronchial:	n/a
42	chr19:41948653-41948703	Hepatocyte	liver:	n/a
43	chr19:41948653-41948703	SAEC	small airway:	n/a
44	chr19:41948653-41948703	GM19239	blood:	n/a
45	chr19:41948653-41948703	CMK	blood:	n/a
46	chr19:41948653-41948703	PANC-1	pancreas:	n/a
47	chr19:41948653-41948703	T-47D	breast:	n/a
48	chr19:41948653-41948703	AoSMC	blood vessel:	n/a
49	chr19:41948653-41948703	RPTEC	kidney:	n/a
50	chr19:41948653-41948703	A549	lung:	n/a

No data

Variant related genes	Relation type
C19orf69	CpG island
ATP5SL	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10407348	0.90[ASN][1000 genomes]
rs12459980	0.90[EUR][1000 genomes]
rs3745285	0.85[JPT][hapmap]
rs3745286	0.84[JPT][hapmap]
rs57313046	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72480753	0.90[EUR][1000 genomes]
rs7256981	0.87[EUR][1000 genomes]
rs8107951	0.90[EUR][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11083620	BCKDHA	cis	lymphoblastoid	seeQTL
rs11083620	GPR77	cis	parietal	SCAN
rs11083620	CD177	cis	cerebellum	SCAN
rs11083620	STRN4	cis	cerebellum	SCAN
rs11083620	SCAF1	cis	cerebellum	SCAN
rs11083620	C5AR1	cis	cerebellum	SCAN
rs11083620	CD37	cis	cerebellum	SCAN
rs11083620	RASIP1	cis	cerebellum	SCAN
rs11083620	APOBEC3H	trans	parietal	SCAN
rs11083620	CEACAM16	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41946000-41953000	Weak transcription	Right Atrium	heart
2	chr19:41946200-41949800	Weak transcription	GM12878-XiMat	blood
3	chr19:41946600-41950800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr19:41946800-41949600	Weak transcription	K562	blood
5	chr19:41946800-41952400	Weak transcription	Spleen	Spleen
6	chr19:41947800-41948800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:41947800-41949000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr19:41948000-41957200	Weak transcription	Esophagus	oesophagus
9	chr19:41948400-41949800	Flanking Active TSS	HepG2	liver
10	chr19:41948600-41948800	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr19:41948600-41948800	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr19:41948600-41949200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:41948600-41949200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr19:41948600-41949200	Enhancers	Left Ventricle	heart

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