Variant report

Variant	rs541953651
Chromosome Location	chr9:86583680-86583681
allele	A/T
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	POLR2A	chr9:86583341-86584277	GM12892	blood:	n/a	n/a
2	POLR2A	chr9:86583525-86584115	GM12891	blood:	n/a	n/a
3	POLR2A	chr9:86583469-86597690	K562	blood:	n/a	n/a
4	POLR2A	chr9:86583539-86583785	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr9:86583383-86585603	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:86583527-86583718	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr9:86583281-86584337	GM12892	blood:	n/a	n/a
8	POLR2A	chr9:86583521-86584245	GM12891	blood:	n/a	n/a
9	POLR2A	chr9:86583437-86583743	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:86583611-86583803	K562	blood:	n/a	n/a
11	POLR2A	chr9:86583637-86583722	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr9:86583639-86584208	MCF-7	breast:	n/a	n/a
13	POLR2A	chr9:86583357-86583781	GM12891	blood:	n/a	n/a
14	POLR2A	chr9:86579375-86587923	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr9:86583360-86583848	HepG2	liver:	n/a	n/a
16	POLR2A	chr9:86583395-86583793	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr9:86583501-86583784	U87	brain:	n/a	n/a
18	POLR2A	chr9:86579397-86583727	HepG2	liver:	n/a	n/a
19	POLR2A	chr9:86583381-86584137	GM12892	blood:	n/a	n/a
20	POLR2A	chr9:86583428-86583692	HepG2	liver:	n/a	n/a
21	POLR2A	chr9:86583371-86584272	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000235298	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv8541	chr9:86469723-86593758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv831644	chr9:86534310-86704395	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	esv3366490	chr9:86541369-86608868	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	nsv1043703	chr9:86545917-86603545	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv972408	chr9:86583268-86584813	Weak transcription Strong transcription Genic enhancers	TF binding region miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86571800-86584600	Weak transcription	Spleen	Spleen
2	chr9:86572000-86586200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:86572200-86584600	Weak transcription	Ovary	ovary
4	chr9:86572200-86586600	Weak transcription	Aorta	Aorta
5	chr9:86572200-86593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:86572400-86584000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:86572400-86584400	Weak transcription	Fetal Heart	heart
8	chr9:86572400-86584600	Weak transcription	Thymus	Thymus
9	chr9:86572400-86585800	Weak transcription	Pancreas	Pancrea
10	chr9:86572400-86586000	Weak transcription	Gastric	stomach
11	chr9:86572400-86586000	Weak transcription	Psoas Muscle	Psoas
12	chr9:86572400-86586000	Weak transcription	Right Ventricle	heart
13	chr9:86572400-86590000	Weak transcription	Right Atrium	heart
14	chr9:86572600-86584200	Weak transcription	Fetal Brain Male	brain
15	chr9:86572600-86584200	Weak transcription	Fetal Brain Female	brain
16	chr9:86572600-86584400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:86572600-86584600	Weak transcription	Small Intestine	intestine
18	chr9:86572600-86585600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:86573200-86585800	Weak transcription	Lung	lung
20	chr9:86577600-86584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:86577600-86584600	Weak transcription	Colonic Mucosa	Colon
22	chr9:86577600-86586400	Weak transcription	Esophagus	oesophagus
23	chr9:86577600-86586600	Weak transcription	Stomach Mucosa	stomach
24	chr9:86577800-86586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:86578600-86584400	Weak transcription	NHEK	skin
26	chr9:86579000-86585800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:86580200-86584400	Weak transcription	Brain Substantia Nigra	brain
28	chr9:86580200-86585800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:86580400-86584600	Weak transcription	Brain Angular Gyrus	brain
30	chr9:86580600-86588600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:86580600-86590400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:86580600-86591400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr9:86580800-86584400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr9:86580800-86586000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:86580800-86588400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr9:86580800-86588600	Strong transcription	Dnd41	blood
37	chr9:86580800-86589800	Strong transcription	HMEC	breast
38	chr9:86581000-86586800	Strong transcription	A549	lung
39	chr9:86581000-86587800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:86581000-86590000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:86581000-86591000	Strong transcription	Osteobl	bone
42	chr9:86581000-86591200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr9:86581000-86591200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr9:86581200-86584400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:86581200-86584400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:86581200-86588800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:86581200-86589600	Strong transcription	Liver	Liver
48	chr9:86581200-86589600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:86581200-86589800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:86581200-86590000	Strong transcription	Fetal Muscle Leg	muscle

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