Variant report

Variant	rs12000754
Chromosome Location	chr9:101570317-101570318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101568546..101571235-chr9:101609367..101611059,3	MCF-7	breast:
2	chr9:101568879..101571340-chr9:101705382..101708339,2	K562	blood:
3	chr9:101556573..101560424-chr9:101566029..101574080,12	MCF-7	breast:
4	chr9:101569010..101571000-chr9:101705834..101707895,2	MCF-7	breast:
5	chr9:101550194..101555244-chr9:101566657..101571786,8	MCF-7	breast:
6	chr9:101551293..101553847-chr9:101568036..101571328,4	K562	blood:
7	chr9:101555483..101562112-chr9:101568669..101573087,9	K562	blood:
8	chr9:101570303..101574512-chr9:101580563..101586059,9	K562	blood:
9	chr9:101557242..101560519-chr9:101566443..101572716,8	MCF-7	breast:
10	chr9:101552233..101554875-chr9:101569362..101571456,2	K562	blood:
11	chr9:101550225..101553756-chr9:101569289..101571539,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270412	Chromatin interaction
ENSG00000204291	Chromatin interaction
ENSG00000165138	Chromatin interaction
ENSG00000119514	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3410897	chr9:101569181-101571179	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101568400-101570600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr9:101569000-101570400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr9:101569200-101570400	Active TSS	Fetal Brain Female	brain
4	chr9:101569200-101571200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr9:101569400-101570400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:101569400-101570400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:101569400-101571000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr9:101569400-101571000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr9:101569600-101570400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:101569600-101570400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr9:101569600-101570400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr9:101569600-101570400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:101569600-101570400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:101569600-101570400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
15	chr9:101569600-101570400	Active TSS	Left Ventricle	heart
16	chr9:101569600-101570400	Active TSS	Ovary	ovary
17	chr9:101569600-101570400	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr9:101569600-101570400	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr9:101569600-101570400	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr9:101569600-101570400	Active TSS	Thymus	Thymus
21	chr9:101569600-101570400	Active TSS	HSMMtube	muscle
22	chr9:101569600-101570600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:101569600-101570600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:101569600-101570600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:101569600-101570600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:101569600-101570600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr9:101569600-101570600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:101569600-101570600	Active TSS	Primary T cells from cord blood	blood
29	chr9:101569600-101570600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:101569600-101570600	Active TSS	Brain Anterior Caudate	brain
31	chr9:101569600-101570600	Active TSS	Brain Hippocampus Middle	brain
32	chr9:101569600-101570600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr9:101569600-101570600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:101569600-101570600	Active TSS	Brain Substantia Nigra	brain
35	chr9:101569600-101570600	Active TSS	Gastric	stomach
36	chr9:101569600-101570600	Active TSS	Small Intestine	intestine
37	chr9:101569600-101570600	Active TSS	GM12878-XiMat	blood
38	chr9:101569600-101570600	Active TSS	HSMM	muscle
39	chr9:101569600-101570800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr9:101569600-101570800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:101569600-101570800	Active TSS	Colon Smooth Muscle	Colon
42	chr9:101569600-101570800	Active TSS	Pancreas	Pancrea
43	chr9:101569600-101570800	Active TSS	Right Atrium	heart
44	chr9:101569600-101570800	Bivalent/Poised TSS	HUVEC	blood vessel
45	chr9:101569600-101570800	Active TSS	Osteobl	bone
46	chr9:101569600-101571000	Enhancers	Liver	Liver
47	chr9:101569600-101571000	Active TSS	Brain Cingulate Gyrus	brain
48	chr9:101569600-101571000	Active TSS	A549	lung
49	chr9:101569600-101571200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr9:101569600-101571200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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