Variant report

Variant	rs148396823
Chromosome Location	chr9:100850488-100850489
allele	C/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	MAX	chr9:100849490-100850630	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr9:100849583-100850617	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr9:100850126-100850498	H1-hESC	embryonic stem cell:	n/a	chr9:100850268-100850282
4	SIN3A	chr9:100849560-100850550	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr9:100849536-100850597	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr9:100849789-100850542	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr9:100849604-100850489	HUVEC	blood vessel:	n/a	n/a
8	CHD2	chr9:100850231-100850492	H1-hESC	embryonic stem cell:	n/a	n/a
9	EGR1	chr9:100849983-100850523	H1-hESC	embryonic stem cell:	n/a	chr9:100850268-100850282
10	E2F6	chr9:100849444-100850640	H1-hESC	embryonic stem cell:	n/a	n/a
11	RUNX3	chr9:100850036-100850500	GM12878	blood:	n/a	n/a
12	SP1	chr9:100850090-100850539	H1-hESC	embryonic stem cell:	n/a	chr9:100850444-100850453 chr9:100850443-100850452 chr9:100850444-100850453 chr9:100850337-100850348 chr9:100850442-100850454 chr9:100850317-100850328 chr9:100850443-100850453 chr9:100850442-100850454
13	MAX	chr9:100849662-100850547	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr9:100849468-100850666	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:100849256..100851636-chr9:100854662..100858526,4	MCF-7	breast:
2	chr9:100838071..100839825-chr9:100848704..100850871,2	K562	blood:
3	chr9:100850324..100853210-chr9:100878642..100880962,2	K562	blood:

Variant related genes	Relation type
TRIM14	TF binding region
ENSG00000095380	Chromatin interaction
ENSG00000106785	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	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 target site	36 gene(s)	inside rSNPs	diseases
2	nsv1040483	chr9:100835325-100868437	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv3341074	chr9:100848756-100851304	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3440157	chr9:100849156-100851704	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100838200-100852800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:100838600-100852000	Strong transcription	GM12878-XiMat	blood
3	chr9:100839400-100861800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:100839600-100850600	Strong transcription	Thymus	Thymus
5	chr9:100845000-100850600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:100845200-100853000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr9:100845200-100856200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:100845200-100856600	Weak transcription	Small Intestine	intestine
9	chr9:100845800-100853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:100846000-100862600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr9:100846200-100862200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr9:100846400-100854200	Weak transcription	HSMMtube	muscle
13	chr9:100846400-100856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr9:100846400-100861200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:100847400-100859400	Weak transcription	HepG2	liver
16	chr9:100847400-100869400	Weak transcription	A549	lung
17	chr9:100847600-100867000	Weak transcription	Hela-S3	cervix
18	chr9:100848600-100850600	Enhancers	Placenta	Placenta
19	chr9:100849000-100850600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr9:100849200-100853600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:100849200-100854400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:100849200-100856400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr9:100849400-100850600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr9:100849600-100850600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:100849600-100850600	Active TSS	Brain Germinal Matrix	brain
26	chr9:100849600-100850600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr9:100849600-100850600	Active TSS	Fetal Brain Female	brain
28	chr9:100849600-100850600	Flanking Active TSS	Osteobl	bone
29	chr9:100849600-100850800	Enhancers	Primary hematopoietic stem cells	blood
30	chr9:100849600-100851000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr9:100849600-100851800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:100849600-100852400	Weak transcription	K562	blood
33	chr9:100849600-100856400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr9:100849800-100850600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:100849800-100850600	Active TSS	Brain Anterior Caudate	brain
36	chr9:100849800-100850600	Active TSS	Stomach Smooth Muscle	stomach
37	chr9:100849800-100850600	Flanking Active TSS	HUVEC	blood vessel
38	chr9:100849800-100850600	Active TSS	NHLF	lung
39	chr9:100849800-100850800	Enhancers	Primary B cells from cord blood	blood
40	chr9:100849800-100852400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr9:100849800-100853200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr9:100849800-100856200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:100849800-100856400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:100850000-100850600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:100850000-100850600	Active TSS	Brain Hippocampus Middle	brain
46	chr9:100850000-100850600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr9:100850000-100850600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr9:100850000-100850600	Enhancers	Fetal Kidney	kidney
49	chr9:100850000-100850600	Bivalent/Poised TSS	Fetal Stomach	stomach
50	chr9:100850000-100850600	Active TSS	NHDF-Ad	bronchial

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