Variant report

Variant	rs190309901
Chromosome Location	chr9:97843586-97843587
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	POLR2A	chr9:97843232-97843784	A549	lung:	n/a	n/a
2	POLR2A	chr9:97843202-97843830	A549	lung:	n/a	n/a
3	POLR2A	chr9:97843233-97843792	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:97843218-97843809	A549	lung:	n/a	n/a
5	POLR2A	chr9:97843157-97843815	A549	lung:	n/a	n/a
6	BCL3	chr9:97843108-97843876	A549	lung:	n/a	chr9:97843523-97843532
7	POLR2A	chr9:97843527-97843599	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr9:97843456-97845077	HepG2	liver:	n/a	n/a
9	POLR2A	chr9:97836122-97846291	A549	lung:	n/a	n/a
10	POLR2A	chr9:97843494-97843883	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97842032..97844284-chr9:97846678..97849140,2	K562	blood:

Variant related genes	Relation type
MIR27B	TF binding region
MIR23B	TF binding region
ENSG00000207617	Chromatin interaction
ENSG00000207864	Chromatin interaction
ENSG00000207563	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038106	chr9:97793038-97881416	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
4	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
5	nsv831656	chr9:97831551-97989980	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
6	esv3341854	chr9:97843531-97848029	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	266 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97813000-97873000	Weak transcription	K562	blood
2	chr9:97820000-97854200	Weak transcription	Fetal Brain Male	brain
3	chr9:97820600-97875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:97822800-97845400	Weak transcription	Primary B cells from cord blood	blood
5	chr9:97823600-97845000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr9:97824800-97844600	Weak transcription	Fetal Thymus	thymus
7	chr9:97825400-97854400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr9:97825800-97852600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:97826200-97847400	Weak transcription	HUVEC	blood vessel
10	chr9:97826400-97844200	Weak transcription	GM12878-XiMat	blood
11	chr9:97830600-97844800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:97835400-97845200	Weak transcription	HMEC	breast
13	chr9:97836800-97844600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:97838000-97871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr9:97838600-97844400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:97838800-97844400	Genic enhancers	Fetal Stomach	stomach
17	chr9:97839200-97843600	Genic enhancers	Ovary	ovary
18	chr9:97839200-97844600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr9:97839200-97845800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:97839600-97845800	Genic enhancers	HSMM	muscle
21	chr9:97839600-97850400	Strong transcription	HepG2	liver
22	chr9:97839600-97851000	Genic enhancers	A549	lung
23	chr9:97840000-97850000	Strong transcription	Osteobl	bone
24	chr9:97840200-97846000	Genic enhancers	Left Ventricle	heart
25	chr9:97840800-97851800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:97841000-97845000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:97841200-97844200	Weak transcription	Brain Germinal Matrix	brain
28	chr9:97841200-97845400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr9:97841200-97845600	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:97841200-97846200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:97841200-97849800	Strong transcription	NH-A	brain
32	chr9:97841200-97864400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:97841400-97844200	Weak transcription	Right Atrium	heart
34	chr9:97841400-97844800	Strong transcription	Liver	Liver
35	chr9:97841400-97845200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:97841400-97845400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:97841400-97853000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr9:97841600-97845400	Weak transcription	Small Intestine	intestine
39	chr9:97841600-97847000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:97841600-97849200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr9:97841600-97850000	Strong transcription	NHLF	lung
42	chr9:97841600-97855000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:97841800-97843800	Strong transcription	HSMMtube	muscle
44	chr9:97841800-97851600	Strong transcription	Fetal Intestine Small	intestine
45	chr9:97841800-97853800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:97841800-97854000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr9:97842000-97843600	Weak transcription	Stomach Mucosa	stomach
48	chr9:97842000-97845400	Weak transcription	Psoas Muscle	Psoas
49	chr9:97842200-97844600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr9:97842200-97847200	Weak transcription	Dnd41	blood

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