Variant report

Variant	rs1791690
Chromosome Location	chr11:66317823-66317824
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:11)
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	chr11:66317822-66317872	SK-N-SH_RA	brain:	n/a
2	chr11:66317822-66317872	GM06990	blood:	n/a
3	chr11:66317822-66317872	BE2_C	brain:	n/a
4	chr11:66317822-66317872	AG09309	skin:	n/a
5	chr11:66317822-66317872	RPTEC	kidney:	n/a
6	chr11:66317822-66317872	HUVEC	blood vessel:	n/a
7	chr11:66317822-66317872	GM12878	blood:	n/a
8	chr11:66317822-66317872	PANC-1	pancreas:	n/a
9	chr11:66317822-66317872	SK-N-MC	brain:	n/a
10	chr11:66317822-66317872	NB4	blood:	n/a
11	chr11:66317822-66317872	HRCEpiC	kidney:	n/a
12	chr11:66317822-66317872	GM12891	blood:	n/a
13	chr11:66317822-66317872	NHDF-neo	bronchial:	n/a
14	chr11:66317822-66317872	T-47D	breast:	n/a
15	chr11:66317822-66317872	H1-hESC	embryonic stem cell:	embryo
16	chr11:66317822-66317872	BJ	skin:	n/a
17	chr11:66317822-66317872	NT2-D1	testis:	n/a
18	chr11:66317822-66317872	U87	brain:	n/a
19	chr11:66317822-66317872	SK-N-SH	brain:	n/a
20	chr11:66317822-66317872	HEK293	kidney:	embryo
21	chr11:66317822-66317872	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:66317822-66317872	AoSMC	blood vessel:	n/a
23	chr11:66317822-66317872	CMK	blood:	n/a
24	chr11:66317822-66317872	PrEC	prostate:	n/a
25	chr11:66317822-66317872	AG04449	skin:	fetal
26	chr11:66317822-66317872	Caco-2	colon:	n/a
27	chr11:66317822-66317872	NHBE	bronchial:	n/a
28	chr11:66317822-66317872	ovcar-3	ovarian:	n/a
29	chr11:66317822-66317872	ProgFib	skin:	n/a
30	chr11:66317822-66317872	IMR90	lung:	fetal
31	chr11:66317822-66317872	PFSK-1	brain:	n/a
32	chr11:66317822-66317872	Jurkat	blood:	n/a
33	chr11:66317822-66317872	HCF	heart:	n/a
34	chr11:66317822-66317872	SAEC	small airway:	n/a
35	chr11:66317822-66317872	LNCaP	prostate:	n/a
36	chr11:66317822-66317872	GM12892	blood:	n/a
37	chr11:66317822-66317872	GM19239	blood:	n/a
38	chr11:66317822-66317872	A549	lung:	n/a
39	chr11:66317822-66317872	AG04450	lung:	fetal
40	chr11:66317822-66317872	HepG2	liver:	n/a
41	chr11:66317822-66317872	HMEC	breast:	n/a
42	chr11:66317822-66317872	NH-A	brain:	n/a
43	chr11:66317822-66317872	HAEpiC	amniotic membrane:	n/a
44	chr11:66317822-66317872	HRE	kidney:	n/a
45	chr11:66317822-66317872	HCPEpiC	choroid plexus:	n/a
46	chr11:66317822-66317872	K562	blood:	n/a
47	chr11:66317822-66317872	HL-60	blood:	n/a
48	chr11:66317822-66317872	ECC-1	luminal epithelium:	n/a
49	chr11:66317822-66317872	SKMC	muscle:	n/a
50	chr11:66317822-66317872	AG10803	skin:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66315938..66318857-chr11:66333245..66335389,2	K562	blood:
2	chr11:66311759..66315749-chr11:66316911..66320057,5	K562	blood:
3	chr11:66315799..66318401-chr11:66320037..66321608,2	K562	blood:
4	chr11:66302009..66305192-chr11:66317056..66320691,3	MCF-7	breast:
5	chr11:66317473..66319701-chr11:66325756..66327731,2	K562	blood:
6	chr11:66311878..66315000-chr11:66316510..66320252,4	MCF-7	breast:
7	chr11:66316673..66319908-chr11:66361942..66364639,3	K562	blood:
8	chr11:66315618..66318263-chr11:66344654..66346591,2	K562	blood:
9	chr11:66317031..66319242-chr11:66403704..66406964,3	K562	blood:
10	chr11:66275895..66278516-chr11:66316145..66318842,2	MCF-7	breast:
11	chr11:66298778..66301088-chr11:66316578..66318239,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZDHHC24	CpG island
ENSG00000174080	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000174483	Chromatin interaction
ENSG00000256349	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000248746	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs2511217	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511224	0.81[MEX][hapmap]
rs490998	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs597626	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607736	0.81[AFR][1000 genomes]
rs610293	0.83[YRI][hapmap]
rs679228	0.86[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	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1791690	ESRRA	cis	cerebellum	SCAN
rs1791690	EEF1G	cis	cerebellum	SCAN
rs1791690	BAD	cis	parietal	SCAN
rs1791690	GNG3	cis	cerebellum	SCAN
rs1791690	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs1791690	C11orf80	cis	cerebellum	SCAN
rs1791690	SNORD22	cis	parietal	SCAN
rs1791690	GAL	cis	parietal	SCAN
rs1791690	LRFN4	Cis_1M	lymphoblastoid	RTeQTL
rs1791690	ACTN3	cis	Muscle Skeletal	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66314200-66321400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:66314400-66320400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:66314400-66327000	Weak transcription	Right Atrium	heart
4	chr11:66314800-66326600	Weak transcription	Psoas Muscle	Psoas
5	chr11:66315400-66323600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:66316200-66323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:66316400-66325200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:66316600-66318200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:66316600-66321400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:66316600-66322200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:66316800-66318600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:66316800-66318800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:66316800-66321800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:66316800-66325800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:66317000-66321400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:66317000-66324800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:66317600-66319000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:66317800-66318000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:66317800-66318400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:66317800-66318600	Enhancers	Fetal Muscle Leg	muscle
21	chr11:66317800-66318600	Enhancers	Skeletal Muscle Female	skeletal muscle

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