Variant report

Variant	rs2382460
Chromosome Location	chr9:14203942-14203943
allele	G/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	MAFK	chr9:14203712-14204035	Hela-S3	cervix:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
2	MAFK	chr9:14203775-14204015	K562	blood:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
3	MAFK	chr9:14203715-14203975	H1-hESC	embryonic stem cell:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
4	MAFK	chr9:14203673-14204040	HepG2	liver:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
5	MAFF	chr9:14203673-14204029	HepG2	liver:	n/a	n/a
6	MAFF	chr9:14203701-14204000	K562	blood:	n/a	n/a
7	MAFK	chr9:14203679-14204036	HepG2	liver:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
8	MAFK	chr9:14203660-14204040	IMR90	lung:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14203657..14206657-chr9:14311874..14315004,3	MCF-7	breast:
2	chr9:14200461..14204358-chr9:14312033..14315867,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234982	TF binding region
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv972651	chr9:14203791-14205781	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14192800-14207400	Weak transcription	Spleen	Spleen
2	chr9:14192800-14213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:14196000-14205400	Enhancers	Fetal Lung	lung
4	chr9:14198200-14204000	Enhancers	Colon Smooth Muscle	Colon
5	chr9:14199000-14209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:14199200-14209600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:14199400-14205600	Weak transcription	Small Intestine	intestine
8	chr9:14199400-14207400	Weak transcription	Esophagus	oesophagus
9	chr9:14199400-14207400	Weak transcription	Gastric	stomach
10	chr9:14199400-14209400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:14199400-14215800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:14200200-14205400	Weak transcription	NHDF-Ad	bronchial
13	chr9:14200200-14207200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr9:14200200-14207400	Weak transcription	Lung	lung
15	chr9:14201200-14220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:14201400-14204400	Enhancers	Fetal Brain Male	brain
17	chr9:14201600-14204000	Weak transcription	Left Ventricle	heart
18	chr9:14202400-14204400	Enhancers	Fetal Stomach	stomach
19	chr9:14203000-14204000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr9:14203000-14204000	Enhancers	Stomach Mucosa	stomach
21	chr9:14203000-14206600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:14203000-14212000	Weak transcription	Fetal Intestine Small	intestine
23	chr9:14203200-14204000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr9:14203200-14204000	Enhancers	HMEC	breast
25	chr9:14203200-14204000	Enhancers	NHLF	lung
26	chr9:14203400-14204600	Enhancers	Fetal Muscle Trunk	muscle
27	chr9:14203600-14204000	Enhancers	Adipose Nuclei	Adipose
28	chr9:14203600-14204000	Enhancers	Right Ventricle	heart
29	chr9:14203600-14204000	Enhancers	A549	lung
30	chr9:14203600-14204200	Enhancers	NH-A	brain
31	chr9:14203600-14204800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr9:14203600-14205000	Enhancers	Pancreas	Pancrea
33	chr9:14203600-14205000	Enhancers	Right Atrium	heart
34	chr9:14203600-14205200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr9:14203600-14205400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:14203800-14204000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:14203800-14204000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:14203800-14204000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:14203800-14204000	Weak transcription	Aorta	Aorta
40	chr9:14203800-14204000	Active TSS	Liver	Liver
41	chr9:14203800-14204000	Enhancers	Brain Hippocampus Middle	brain
42	chr9:14203800-14204000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:14203800-14204000	Weak transcription	Psoas Muscle	Psoas
44	chr9:14203800-14204000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr9:14203800-14204000	Enhancers	NHEK	skin
46	chr9:14203800-14204200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:14203800-14204200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr9:14203800-14204400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr9:14203800-14204400	Enhancers	Fetal Brain Female	brain
50	chr9:14203800-14204400	Weak transcription	Fetal Muscle Leg	muscle

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