Variant report

Variant	rs371400739
Chromosome Location	chr11:72295193-72295194
allele	-/C
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	MAX	chr11:72295115-72295996	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr11:72295159-72296147	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72295168-72295218	HCM	heart:	n/a
2	chr11:72295168-72295218	HIPEpiC	eye:	n/a
3	chr11:72295168-72295218	GM12891	blood:	n/a
4	chr11:72295168-72295218	SK-N-MC	brain:	n/a
5	chr11:72295168-72295218	GM19239	blood:	n/a
6	chr11:72295168-72295218	HCT-116	colon:	n/a
7	chr11:72295168-72295218	HCPEpiC	choroid plexus:	n/a
8	chr11:72295168-72295218	A549	lung:	n/a
9	chr11:72295168-72295218	GM12892	blood:	n/a
10	chr11:72295168-72295218	H1-hESC	embryonic stem cell:	embryo
11	chr11:72295168-72295218	SKMC	muscle:	n/a
12	chr11:72295168-72295218	ProgFib	skin:	n/a
13	chr11:72295168-72295218	MCF10A-Er-Src	breast:	n/a
14	chr11:72295168-72295218	SK-N-SH	brain:	n/a
15	chr11:72295168-72295218	NB4	blood:	n/a
16	chr11:72295168-72295218	HRE	kidney:	n/a
17	chr11:72295168-72295218	SAEC	small airway:	n/a
18	chr11:72295168-72295218	HNPCEpiC	eye:	n/a
19	chr11:72295168-72295218	SK-N-SH_RA	brain:	n/a
20	chr11:72295168-72295218	RPTEC	kidney:	n/a
21	chr11:72295168-72295218	NHBE	bronchial:	n/a
22	chr11:72295168-72295218	IMR90	lung:	fetal
23	chr11:72295168-72295218	CMK	blood:	n/a
24	chr11:72295168-72295218	HRPEpiC	eye:	n/a
25	chr11:72295168-72295218	HMEC	breast:	n/a
26	chr11:72295168-72295218	HCF	heart:	n/a
27	chr11:72295168-72295218	T-47D	breast:	n/a
28	chr11:72295168-72295218	GM12878	blood:	n/a
29	chr11:72295168-72295218	Hepatocyte	liver:	n/a
30	chr11:72295168-72295218	Jurkat	blood:	n/a
31	chr11:72295168-72295218	AG04450	lung:	fetal
32	chr11:72295168-72295218	HL-60	blood:	n/a
33	chr11:72295168-72295218	HAEpiC	amniotic membrane:	n/a
34	chr11:72295168-72295218	ECC-1	luminal epithelium:	n/a
35	chr11:72295168-72295218	HUVEC	blood vessel:	n/a
36	chr11:72295168-72295218	K562	blood:	n/a
37	chr11:72295168-72295218	NH-A	brain:	n/a
38	chr11:72295168-72295218	PFSK-1	brain:	n/a
39	chr11:72295168-72295218	AoSMC	blood vessel:	n/a
40	chr11:72295168-72295218	NT2-D1	testis:	n/a
41	chr11:72295168-72295218	Caco-2	colon:	n/a
42	chr11:72295168-72295218	BE2_C	brain:	n/a
43	chr11:72295168-72295218	AG04449	skin:	fetal
44	chr11:72295168-72295218	LNCaP	prostate:	n/a
45	chr11:72295168-72295218	PrEC	prostate:	n/a
46	chr11:72295168-72295218	AG09319	gingival:	n/a
47	chr11:72295168-72295218	AG09309	skin:	n/a
48	chr11:72295168-72295218	HRCEpiC	kidney:	n/a
49	chr11:72295168-72295218	NHDF-neo	bronchial:	n/a
50	chr11:72295168-72295218	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:72288586..72291436-chr11:72293581..72295884,2	K562	blood:
2	chr11:72294789..72296496-chr11:72299692..72301673,2	MCF-7	breast:
3	chr11:72293642..72296987-chr11:72305169..72308806,3	K562	blood:

No data

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000256633	TF binding region
ENSG00000256633	CpG island
PDE2A	CpG island
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS 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
2	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
3	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
4	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
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	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
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription 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
11	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72269600-72295200	Weak transcription	Right Atrium	heart
2	chr11:72282800-72295200	Weak transcription	Gastric	stomach
3	chr11:72285000-72296200	Weak transcription	Liver	Liver
4	chr11:72287400-72295200	Strong transcription	Brain Hippocampus Middle	brain
5	chr11:72287400-72296600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:72287800-72296400	Strong transcription	Stomach Smooth Muscle	stomach
7	chr11:72289400-72299800	Weak transcription	Lung	lung
8	chr11:72289800-72295600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:72291000-72295400	Weak transcription	Esophagus	oesophagus
10	chr11:72291600-72295600	Strong transcription	Spleen	Spleen
11	chr11:72292000-72295200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:72292000-72295800	Weak transcription	Primary B cells from cord blood	blood
13	chr11:72292000-72296000	Weak transcription	Hela-S3	cervix
14	chr11:72293000-72295800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:72293600-72295800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:72293600-72298200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:72293600-72300800	Weak transcription	Left Ventricle	heart
18	chr11:72293800-72296200	Weak transcription	Brain Angular Gyrus	brain
19	chr11:72294000-72295800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:72294400-72297200	Enhancers	Pancreas	Pancrea
21	chr11:72294600-72300000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:72294800-72296000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr11:72294800-72296000	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:72295000-72295200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:72295000-72295200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:72295000-72295200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:72295000-72295400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr11:72295000-72295400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:72295000-72295800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:72295000-72295800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:72295000-72295800	Weak transcription	Adipose Nuclei	Adipose
32	chr11:72295000-72296000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:72295000-72296200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:72295000-72296200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr11:72295000-72296200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:72295000-72297400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr11:72295000-72300800	Weak transcription	Right Ventricle	heart

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