Variant report

Variant	rs73544400
Chromosome Location	chr11:72347370-72347371
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXP2	chr11:72346973-72347386	SK-N-MC	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72347339-72347389	HRPEpiC	eye:	n/a
2	chr11:72347339-72347389	MCF10A-Er-Src	breast:	n/a
3	chr11:72347339-72347389	PFSK-1	brain:	n/a
4	chr11:72347339-72347389	NT2-D1	testis:	n/a
5	chr11:72347339-72347389	MCF-7	breast:	n/a
6	chr11:72347339-72347389	AG04449	skin:	fetal
7	chr11:72347339-72347389	AG04450	lung:	fetal
8	chr11:72347339-72347389	LNCaP	prostate:	n/a
9	chr11:72347339-72347389	AoSMC	blood vessel:	n/a
10	chr11:72347339-72347389	Caco-2	colon:	n/a
11	chr11:72347339-72347389	PrEC	prostate:	n/a
12	chr11:72347339-72347389	HRE	kidney:	n/a
13	chr11:72347339-72347389	HL-60	blood:	n/a
14	chr11:72347339-72347389	H1-hESC	embryonic stem cell:	embryo
15	chr11:72347339-72347389	SK-N-SH_RA	brain:	n/a
16	chr11:72347339-72347389	HEK293	kidney:	embryo
17	chr11:72347339-72347389	AG09309	skin:	n/a
18	chr11:72347339-72347389	HAEpiC	amniotic membrane:	n/a
19	chr11:72347339-72347389	GM12891	blood:	n/a
20	chr11:72347339-72347389	IMR90	lung:	fetal
21	chr11:72347339-72347389	SK-N-MC	brain:	n/a
22	chr11:72347339-72347389	Jurkat	blood:	n/a
23	chr11:72347339-72347389	NHDF-neo	bronchial:	n/a
24	chr11:72347339-72347389	GM12878	blood:	n/a
25	chr11:72347339-72347389	BJ	skin:	n/a
26	chr11:72347339-72347389	Hepatocyte	liver:	n/a
27	chr11:72347339-72347389	ovcar-3	ovarian:	n/a
28	chr11:72347339-72347389	SK-N-SH	brain:	n/a
29	chr11:72347339-72347389	CMK	blood:	n/a
30	chr11:72347339-72347389	HCT-116	colon:	n/a
31	chr11:72347339-72347389	HCF	heart:	n/a
32	chr11:72347339-72347389	HRCEpiC	kidney:	n/a
33	chr11:72347339-72347389	AG09319	gingival:	n/a
34	chr11:72347339-72347389	GM12892	blood:	n/a
35	chr11:72347339-72347389	K562	blood:	n/a
36	chr11:72347339-72347389	U87	brain:	n/a
37	chr11:72347339-72347389	HCM	heart:	n/a
38	chr11:72347339-72347389	PANC-1	pancreas:	n/a
39	chr11:72347339-72347389	HNPCEpiC	eye:	n/a
40	chr11:72347339-72347389	HMEC	breast:	n/a
41	chr11:72347339-72347389	AG10803	skin:	n/a
42	chr11:72347339-72347389	HUVEC	blood vessel:	n/a
43	chr11:72347339-72347389	RPTEC	kidney:	n/a
44	chr11:72347339-72347389	A549	lung:	n/a
45	chr11:72347339-72347389	ProgFib	skin:	n/a
46	chr11:72347339-72347389	HepG2	liver:	n/a
47	chr11:72347339-72347389	NHBE	bronchial:	n/a
48	chr11:72347339-72347389	SAEC	small airway:	n/a
49	chr11:72347339-72347389	GM19239	blood:	n/a
50	chr11:72347339-72347389	GM06990	blood:	n/a

No data

Variant related genes	Relation type
PDE2A	TF binding region
PDE2A	CpG island

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AMR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs366711	1.00[AMR][1000 genomes]
rs371903	1.00[AMR][1000 genomes]
rs379276	1.00[AMR][1000 genomes]
rs379638	1.00[AMR][1000 genomes]
rs390130	1.00[AMR][1000 genomes]
rs392818	1.00[AMR][1000 genomes]
rs408269	1.00[AMR][1000 genomes]
rs414178	1.00[AMR][1000 genomes]
rs424234	1.00[AMR][1000 genomes]
rs452228	1.00[AMR][1000 genomes]
rs55816648	1.00[AMR][1000 genomes]
rs56251316	1.00[AMR][1000 genomes]
rs57512065	1.00[AMR][1000 genomes]
rs577536	1.00[AMR][1000 genomes]
rs58744558	1.00[AMR][1000 genomes]
rs59222962	1.00[AMR][1000 genomes]
rs59414438	1.00[AMR][1000 genomes]
rs61417743	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs633405	1.00[AMR][1000 genomes]
rs644698	1.00[AMR][1000 genomes]
rs7108477	1.00[AMR][1000 genomes]
rs7110834	1.00[AMR][1000 genomes]
rs73529620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529668	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529672	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73541179	1.00[AMR][1000 genomes]
rs73541198	1.00[AMR][1000 genomes]
rs73542594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73543236	1.00[AMR][1000 genomes]
rs73543237	1.00[AMR][1000 genomes]
rs73543245	1.00[AMR][1000 genomes]
rs73543251	1.00[AMR][1000 genomes]
rs73544388	1.00[AMR][1000 genomes]
rs73546206	1.00[AMR][1000 genomes]
rs73546218	0.84[AFR][1000 genomes]
rs73546230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
7	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	esv1793754	chr11:72335673-72348106	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
2	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr11:72335800-72349000	Enhancers	Fetal Brain Male	brain
4	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
5	chr11:72336000-72350400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:72337800-72348200	Weak transcription	Gastric	stomach
7	chr11:72338400-72348200	Weak transcription	Ovary	ovary
8	chr11:72339000-72350600	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:72340200-72349400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:72340400-72349400	Enhancers	Fetal Brain Female	brain
11	chr11:72341600-72349400	Enhancers	Brain Anterior Caudate	brain
12	chr11:72342600-72349400	Enhancers	HUVEC	blood vessel
13	chr11:72343400-72348200	Weak transcription	Liver	Liver
14	chr11:72343400-72350200	Enhancers	Right Atrium	heart
15	chr11:72343400-72351000	Weak transcription	Esophagus	oesophagus
16	chr11:72343600-72347400	Enhancers	Brain Germinal Matrix	brain
17	chr11:72343600-72348600	Weak transcription	Pancreas	Pancrea
18	chr11:72343600-72349600	Bivalent Enhancer	Fetal Stomach	stomach
19	chr11:72343600-72350800	Weak transcription	Brain Substantia Nigra	brain
20	chr11:72343600-72351000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:72343800-72348000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:72344200-72347600	Weak transcription	Hela-S3	cervix
23	chr11:72344600-72349600	Enhancers	Stomach Smooth Muscle	stomach
24	chr11:72344600-72351600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr11:72345800-72348200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:72345800-72350400	Enhancers	Colon Smooth Muscle	Colon
27	chr11:72346000-72347600	Enhancers	HSMMtube	muscle
28	chr11:72346000-72348800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr11:72346400-72347400	Enhancers	Fetal Lung	lung
30	chr11:72346400-72349000	Weak transcription	Psoas Muscle	Psoas
31	chr11:72346400-72349400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr11:72346600-72347800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:72346600-72347800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr11:72346600-72348800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:72346600-72350400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr11:72346800-72347400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:72346800-72347800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr11:72346800-72348000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:72346800-72348400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:72346800-72349000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:72346800-72349200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:72346800-72351600	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr11:72347000-72347400	Enhancers	Right Ventricle	heart
44	chr11:72347000-72348200	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr11:72347000-72350800	Enhancers	Spleen	Spleen
46	chr11:72347200-72348400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr11:72347200-72348600	Weak transcription	Lung	lung
48	chr11:72347200-72351000	Enhancers	Brain Angular Gyrus	brain

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