Variant report

Variant	rs533040870
Chromosome Location	chr11:72348315-72348316
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:72348151-72348569	H1-hESC	embryonic stem cell:	n/a	chr11:72348379-72348388 chr11:72348209-72348219
2	MAX	chr11:72348249-72348513	Hela-S3	cervix:	n/a	chr11:72348379-72348388
3	CHD2	chr11:72348199-72348421	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:72348213-72348559	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr11:72348264-72348515	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr11:72348146-72348788	HCT-116	colon:	n/a	chr11:72348379-72348388 chr11:72348209-72348219

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72340095..72342278-chr11:72348258..72351014,2	MCF-7	breast:

Variant related genes	Relation type
PDE2A	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	esv2325810	chr11:72347875-72348399	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 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	chr11:72339000-72350600	Enhancers	Brain Cingulate Gyrus	brain
7	chr11:72340200-72349400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:72340400-72349400	Enhancers	Fetal Brain Female	brain
9	chr11:72341600-72349400	Enhancers	Brain Anterior Caudate	brain
10	chr11:72342600-72349400	Enhancers	HUVEC	blood vessel
11	chr11:72343400-72350200	Enhancers	Right Atrium	heart
12	chr11:72343400-72351000	Weak transcription	Esophagus	oesophagus
13	chr11:72343600-72348600	Weak transcription	Pancreas	Pancrea
14	chr11:72343600-72349600	Bivalent Enhancer	Fetal Stomach	stomach
15	chr11:72343600-72350800	Weak transcription	Brain Substantia Nigra	brain
16	chr11:72343600-72351000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:72344600-72349600	Enhancers	Stomach Smooth Muscle	stomach
18	chr11:72344600-72351600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr11:72345800-72350400	Enhancers	Colon Smooth Muscle	Colon
20	chr11:72346000-72348800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr11:72346400-72349000	Weak transcription	Psoas Muscle	Psoas
22	chr11:72346400-72349400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr11:72346600-72348800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:72346600-72350400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr11:72346800-72348400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr11:72346800-72349000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr11:72346800-72349200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:72346800-72351600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr11:72347000-72350800	Enhancers	Spleen	Spleen
30	chr11:72347200-72348400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:72347200-72348600	Weak transcription	Lung	lung
32	chr11:72347200-72351000	Enhancers	Brain Angular Gyrus	brain
33	chr11:72347400-72348600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:72347400-72349000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr11:72347400-72349000	Weak transcription	Fetal Lung	lung
36	chr11:72347400-72349200	Weak transcription	Brain Germinal Matrix	brain
37	chr11:72347600-72349400	Enhancers	Hela-S3	cervix
38	chr11:72347600-72351000	Enhancers	Right Ventricle	heart
39	chr11:72347800-72349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:72348000-72348800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:72348200-72348400	Enhancers	Ovary	ovary
42	chr11:72348200-72348800	Enhancers	Gastric	stomach
43	chr11:72348200-72349200	Enhancers	Adipose Nuclei	Adipose
44	chr11:72348200-72349400	Enhancers	Liver	Liver
45	chr11:72348200-72351000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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