Variant report

Variant	rs570959543
Chromosome Location	chr9:98280018-98280019
allele	A/G
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	REST	chr9:98277262-98280262	H1-neurons	neurons:	n/a	chr9:98277674-98277692 chr9:98277673-98277693 chr9:98278638-98278651 chr9:98277673-98277693
2	SIN3A	chr9:98277461-98280031	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr9:98278924-98280059	H1-neurons	neurons:	n/a	n/a
4	CTBP2	chr9:98278676-98280022	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr9:98278904-98280100	H1-hESC	embryonic stem cell:	n/a	chr9:98279444-98279453
6	POLR2A	chr9:98277497-98280257	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr9:98277613-98280271	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:98276862..98280186-chr9:98636651..98639407,3	K562	blood:
2	chr9:98279388..98282598-chr9:98285107..98287156,3	MCF-7	breast:
3	chr9:98277796..98280674-chr9:98636940..98639822,3	K562	blood:

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000175611	Chromatin interaction
ENSG00000182150	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	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv824994	chr9:98239963-98314431	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv824995	chr9:98243455-98326547	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv824996	chr9:98245375-98283861	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv917118	chr9:98279162-98284265	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98277400-98280200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr9:98277600-98280200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr9:98277800-98280200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr9:98277800-98280200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr9:98277800-98280200	Active TSS	Brain Cingulate Gyrus	brain
6	chr9:98277800-98280200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:98278000-98280200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr9:98278000-98280200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr9:98278000-98280200	Active TSS	Brain Substantia Nigra	brain
10	chr9:98278000-98280200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr9:98278200-98280200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:98279200-98280200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr9:98279200-98280200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:98279400-98280200	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr9:98279400-98280200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
16	chr9:98279400-98280200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr9:98279400-98280200	Bivalent/Poised TSS	HSMM	muscle
18	chr9:98279600-98280200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr9:98279600-98280200	Flanking Active TSS	Fetal Lung	lung
20	chr9:98279600-98280200	Enhancers	K562	blood
21	chr9:98279800-98280200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr9:98279800-98280200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr9:98279800-98280200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr9:98280000-98280200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:98280000-98280200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:98280000-98280200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr9:98280000-98280200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:98280000-98280200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr9:98280000-98280200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr9:98280000-98280200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr9:98280000-98280200	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr9:98280000-98280200	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr9:98280000-98280400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:98280000-98280400	Enhancers	Fetal Brain Male	brain
35	chr9:98280000-98282000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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