Variant report

Variant	rs3781926
Chromosome Location	chr11:72350595-72350596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:72350539-72350654	HepG2	liver:	n/a	n/a
2	MAX	chr11:72350419-72350791	K562	blood:	n/a	chr11:72350647-72350656 chr11:72350648-72350655

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72350553-72350603	GM12891	blood:	n/a
2	chr11:72350553-72350603	NB4	blood:	n/a
3	chr11:72350553-72350603	HCM	heart:	n/a
4	chr11:72350553-72350603	GM06990	blood:	n/a
5	chr11:72350553-72350603	HRCEpiC	kidney:	n/a
6	chr11:72350553-72350603	A549	lung:	n/a
7	chr11:72350553-72350603	PANC-1	pancreas:	n/a
8	chr11:72350553-72350603	GM12892	blood:	n/a
9	chr11:72350553-72350603	HMEC	breast:	n/a
10	chr11:72350553-72350603	SK-N-SH_RA	brain:	n/a
11	chr11:72350553-72350603	Caco-2	colon:	n/a
12	chr11:72350553-72350603	HL-60	blood:	n/a
13	chr11:72350553-72350603	AG10803	skin:	n/a
14	chr11:72350553-72350603	AG04449	skin:	fetal
15	chr11:72350553-72350603	AoSMC	blood vessel:	n/a
16	chr11:72350553-72350603	NH-A	brain:	n/a
17	chr11:72350553-72350603	ProgFib	skin:	n/a
18	chr11:72350553-72350603	CMK	blood:	n/a
19	chr11:72350553-72350603	U87	brain:	n/a
20	chr11:72350553-72350603	MCF-7	breast:	n/a
21	chr11:72350553-72350603	Jurkat	blood:	n/a
22	chr11:72350553-72350603	HCPEpiC	choroid plexus:	n/a
23	chr11:72350553-72350603	NHDF-neo	bronchial:	n/a
24	chr11:72350553-72350603	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:72350553-72350603	HRPEpiC	eye:	n/a
26	chr11:72350553-72350603	HCF	heart:	n/a
27	chr11:72350553-72350603	Hepatocyte	liver:	n/a
28	chr11:72350553-72350603	H1-hESC	embryonic stem cell:	embryo
29	chr11:72350553-72350603	SKMC	muscle:	n/a
30	chr11:72350553-72350603	HAEpiC	amniotic membrane:	n/a
31	chr11:72350553-72350603	LNCaP	prostate:	n/a
32	chr11:72350553-72350603	SK-N-SH	brain:	n/a
33	chr11:72350553-72350603	HUVEC	blood vessel:	n/a
34	chr11:72350553-72350603	RPTEC	kidney:	n/a
35	chr11:72350553-72350603	GM12878	blood:	n/a
36	chr11:72350553-72350603	BJ	skin:	n/a
37	chr11:72350553-72350603	NT2-D1	testis:	n/a
38	chr11:72350553-72350603	AG09309	skin:	n/a
39	chr11:72350553-72350603	K562	blood:	n/a
40	chr11:72350553-72350603	HRE	kidney:	n/a
41	chr11:72350553-72350603	SK-N-MC	brain:	n/a
42	chr11:72350553-72350603	Hela-S3	cervix:	n/a
43	chr11:72350553-72350603	ovcar-3	ovarian:	n/a
44	chr11:72350553-72350603	HEK293	kidney:	embryo
45	chr11:72350553-72350603	PFSK-1	brain:	n/a
46	chr11:72350553-72350603	AG09319	gingival:	n/a
47	chr11:72350553-72350603	HEEpiC	esophagus:	n/a
48	chr11:72350553-72350603	NHBE	bronchial:	n/a
49	chr11:72350553-72350603	HepG2	liver:	n/a
50	chr11:72350553-72350603	HIPEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72350202..72352070-chr11:72353672..72355954,2	K562	blood:
2	chr11:72340095..72342278-chr11:72348258..72351014,2	MCF-7	breast:
3	chr11:72345729..72347708-chr11:72348323..72351528,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255808	TF binding region
PDE2A	TF binding region
ENSG00000255808	CpG island
PDE2A	CpG island
ENSG00000255808	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1038377	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898861	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs151449	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs341038	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs341050	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342321	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366068	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3781923	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401999	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs455631	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458437	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs459309	0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs459546	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs460633	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs464853	0.96[ASN][1000 genomes]
rs676845	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs676911	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	esv3413076	chr11:72349804-72353302	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3781926	STARD10	cis	cerebellum	SCAN
rs3781926	ARAP1	cis	cerebellum	SCAN
rs3781926	RELT	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
2	chr11:72339000-72350600	Enhancers	Brain Cingulate Gyrus	brain
3	chr11:72343400-72351000	Weak transcription	Esophagus	oesophagus
4	chr11:72343600-72350800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:72343600-72351000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:72344600-72351600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:72346800-72351600	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr11:72347000-72350800	Enhancers	Spleen	Spleen
9	chr11:72347200-72351000	Enhancers	Brain Angular Gyrus	brain
10	chr11:72347600-72351000	Enhancers	Right Ventricle	heart
11	chr11:72348200-72351000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr11:72348600-72352600	Enhancers	Lung	lung
13	chr11:72348800-72352800	Weak transcription	Gastric	stomach
14	chr11:72349000-72350800	Weak transcription	Fetal Brain Male	brain
15	chr11:72349000-72352200	Weak transcription	Pancreas	Pancrea
16	chr11:72349400-72352000	Weak transcription	Liver	Liver
17	chr11:72349600-72351000	Weak transcription	Psoas Muscle	Psoas
18	chr11:72350200-72350600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr11:72350200-72351000	Enhancers	Brain Anterior Caudate	brain
20	chr11:72350200-72351000	Weak transcription	Right Atrium	heart
21	chr11:72350200-72351000	Active TSS	Hela-S3	cervix
22	chr11:72350200-72351400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:72350400-72350600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:72350400-72350600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr11:72350400-72350600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:72350400-72350800	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:72350400-72351000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:72350400-72351000	Weak transcription	Left Ventricle	heart
29	chr11:72350400-72351200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:72350400-72352000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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