Variant report

Variant	rs12378954
Chromosome Location	chr9:71997276-71997277
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	RAD21	chr9:71997257-71997576	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:71939667..71941572-chr9:71995013..71999921,5	MCF-7	breast:
2	chr9:71995411..71998081-chr9:71998743..72001190,2	MCF-7	breast:
3	chr9:71991329..71993145-chr9:71996881..71999330,2	MCF-7	breast:
4	chr9:71996842..72001188-chr9:72001690..72005051,4	MCF-7	breast:

Variant related genes	Relation type
FAM189A2	TF binding region
ENSG00000135063	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats 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
2	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers 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	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv893429	chr9:71961923-72047337	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv893430	chr9:71968730-72036369	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71979000-72001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:71983400-72001800	Weak transcription	Brain Anterior Caudate	brain
3	chr9:71985400-72006600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:71986600-72002600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:71988800-71998600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:71989000-72002800	Weak transcription	Brain Substantia Nigra	brain
7	chr9:71990600-72000200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:71991800-72012200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr9:71992000-72001800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:71992000-72009800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:71992200-72001800	Weak transcription	Adipose Nuclei	Adipose
12	chr9:71992400-71999400	Weak transcription	Brain Angular Gyrus	brain
13	chr9:71992400-72001800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:71992600-72000800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:71992600-72006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:71992600-72006600	Weak transcription	Esophagus	oesophagus
17	chr9:71992800-71997400	Enhancers	Fetal Muscle Leg	muscle
18	chr9:71992800-71998200	Weak transcription	Ovary	ovary
19	chr9:71992800-71998400	Weak transcription	Fetal Stomach	stomach
20	chr9:71992800-72000200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:71992800-72001400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr9:71993000-72006600	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:71994000-71997400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:71994000-71997400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:71994400-72006800	Weak transcription	Spleen	Spleen
26	chr9:71994800-71998400	Weak transcription	Gastric	stomach
27	chr9:71994800-72000200	Weak transcription	Pancreas	Pancrea
28	chr9:71995000-72000200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:71995000-72000600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:71995000-72000800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:71995000-72012600	Weak transcription	Aorta	Aorta
32	chr9:71996000-71997400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:71996000-71997400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr9:71996000-72000400	Weak transcription	HUVEC	blood vessel
35	chr9:71996200-71997600	Enhancers	Fetal Heart	heart
36	chr9:71996200-71997800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr9:71996200-71998400	Weak transcription	Right Ventricle	heart
38	chr9:71996200-72000200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:71996200-72000200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:71996200-72000800	Weak transcription	Lung	lung
41	chr9:71996200-72001800	Weak transcription	Left Ventricle	heart
42	chr9:71996600-72000800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:71996600-72002000	Weak transcription	Colon Smooth Muscle	Colon
44	chr9:71996600-72004200	Weak transcription	Right Atrium	heart
45	chr9:71996800-71997400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:71996800-71997400	Enhancers	Fetal Muscle Trunk	muscle
47	chr9:71996800-71997600	Enhancers	Fetal Lung	lung
48	chr9:71997000-71997400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr9:71997000-71997400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:71997000-71997400	Enhancers	Cortex derived primary cultured neurospheres	brain

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