Variant report

Variant	rs11822742
Chromosome Location	chr11:70858698-70858699
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	chr11:70858695-70858745	CMK	blood:	n/a
2	chr11:70858695-70858745	HMEC	breast:	n/a
3	chr11:70858695-70858745	SKMC	muscle:	n/a
4	chr11:70858695-70858745	AG09319	gingival:	n/a
5	chr11:70858695-70858745	GM19239	blood:	n/a
6	chr11:70858695-70858745	ECC-1	luminal epithelium:	n/a
7	chr11:70858695-70858745	RPTEC	kidney:	n/a
8	chr11:70858695-70858745	AoSMC	blood vessel:	n/a
9	chr11:70858695-70858745	SK-N-SH	brain:	n/a
10	chr11:70858695-70858745	Caco-2	colon:	n/a
11	chr11:70858695-70858745	NH-A	brain:	n/a
12	chr11:70858695-70858745	A549	lung:	n/a
13	chr11:70858695-70858745	AG04450	lung:	fetal
14	chr11:70858695-70858745	AG04449	skin:	fetal
15	chr11:70858695-70858745	IMR90	lung:	fetal
16	chr11:70858695-70858745	PFSK-1	brain:	n/a
17	chr11:70858695-70858745	HCF	heart:	n/a
18	chr11:70858695-70858745	HRE	kidney:	n/a
19	chr11:70858695-70858745	HIPEpiC	eye:	n/a
20	chr11:70858695-70858745	HCT-116	colon:	n/a
21	chr11:70858695-70858745	SK-N-MC	brain:	n/a
22	chr11:70858695-70858745	SAEC	small airway:	n/a
23	chr11:70858695-70858745	HRCEpiC	kidney:	n/a
24	chr11:70858695-70858745	HUVEC	blood vessel:	n/a
25	chr11:70858695-70858745	NB4	blood:	n/a
26	chr11:70858695-70858745	NHDF-neo	bronchial:	n/a
27	chr11:70858695-70858745	HCPEpiC	choroid plexus:	n/a
28	chr11:70858695-70858745	HEEpiC	esophagus:	n/a
29	chr11:70858695-70858745	H1-hESC	embryonic stem cell:	embryo
30	chr11:70858695-70858745	GM12891	blood:	n/a
31	chr11:70858695-70858745	NHBE	bronchial:	n/a
32	chr11:70858695-70858745	K562	blood:	n/a
33	chr11:70858695-70858745	HCM	heart:	n/a
34	chr11:70858695-70858745	GM06990	blood:	n/a
35	chr11:70858695-70858745	BJ	skin:	n/a
36	chr11:70858695-70858745	BE2_C	brain:	n/a
37	chr11:70858695-70858745	GM12892	blood:	n/a
38	chr11:70858695-70858745	AG10803	skin:	n/a
39	chr11:70858695-70858745	HPAEpiC	pulmonary alveolar:	n/a
40	chr11:70858695-70858745	GM12878	blood:	n/a
41	chr11:70858695-70858745	AG09309	skin:	n/a
42	chr11:70858695-70858745	NT2-D1	testis:	n/a
43	chr11:70858695-70858745	HRPEpiC	eye:	n/a
44	chr11:70858695-70858745	MCF-7	breast:	n/a
45	chr11:70858695-70858745	HAEpiC	amniotic membrane:	n/a
46	chr11:70858695-70858745	HEK293	kidney:	embryo
47	chr11:70858695-70858745	Jurkat	blood:	n/a
48	chr11:70858695-70858745	ProgFib	skin:	n/a
49	chr11:70858695-70858745	HNPCEpiC	eye:	n/a
50	chr11:70858695-70858745	HL-60	blood:	n/a

No data

Variant related genes	Relation type
SHANK2	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11232452	1.00[EUR][1000 genomes]
rs11232477	1.00[EUR][1000 genomes]
rs11232508	1.00[EUR][1000 genomes]
rs11820146	1.00[AFR][1000 genomes]
rs11820282	0.98[AFR][1000 genomes]
rs11822962	1.00[AFR][1000 genomes]
rs11826649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11827505	1.00[AFR][1000 genomes]
rs11828210	1.00[AFR][1000 genomes]
rs3934693	1.00[EUR][1000 genomes]
rs4072326	1.00[EUR][1000 genomes]
rs4943820	1.00[EUR][1000 genomes]
rs4943871	1.00[EUR][1000 genomes]
rs55656100	0.82[EUR][1000 genomes]
rs55690281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55712817	1.00[EUR][1000 genomes]
rs55788978	1.00[EUR][1000 genomes]
rs55836628	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55897315	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55928066	1.00[EUR][1000 genomes]
rs56162839	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56220831	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56255416	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56368604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57007124	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57772484	1.00[AFR][1000 genomes]
rs58224946	1.00[AFR][1000 genomes]
rs58661988	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58984468	1.00[EUR][1000 genomes]
rs59858246	1.00[AFR][1000 genomes]
rs59894456	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61037105	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73521132	0.82[EUR][1000 genomes]
rs73521141	0.82[EUR][1000 genomes]
rs7927453	1.00[AFR][1000 genomes]
rs7938379	1.00[AFR][1000 genomes]
rs7944885	0.82[EUR][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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:70824000-70861600	Weak transcription	A549	lung
2	chr11:70832200-70860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:70832200-70863600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:70832200-70864400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:70842400-70860600	Weak transcription	Fetal Intestine Large	intestine
6	chr11:70842600-70860800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:70854400-70858800	Strong transcription	Fetal Intestine Small	intestine
8	chr11:70854400-70858800	Strong transcription	Pancreas	Pancrea
9	chr11:70854400-70859800	Strong transcription	HepG2	liver
10	chr11:70857400-70858800	Strong transcription	Liver	Liver
11	chr11:70857800-70858800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:70858000-70859600	Weak transcription	Spleen	Spleen
13	chr11:70858200-70858800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:70858200-70858800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:70858200-70891000	Weak transcription	Gastric	stomach
16	chr11:70858400-70862400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:70858400-70863600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:70858600-70859800	Weak transcription	Fetal Stomach	stomach
19	chr11:70858600-70861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:70858600-70865400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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