Variant report

Variant	rs140424063
Chromosome Location	chr9:95946067-95946068
allele	C/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	SIN3A	chr9:95946040-95947412	H1-hESC	embryonic stem cell:	n/a	chr9:95947163-95947174 chr9:95946370-95946383 chr9:95946992-95947005
2	MAX	chr9:95945867-95946818	H1-hESC	embryonic stem cell:	n/a	chr9:95946413-95946423
3	MAX	chr9:95945873-95946763	ECC-1	luminal epithelium:	n/a	chr9:95946413-95946423
4	MAX	chr9:95945951-95946740	A549	lung:	n/a	chr9:95946413-95946423
5	MAX	chr9:95945985-95946853	H1-hESC	embryonic stem cell:	n/a	chr9:95946413-95946423
6	E2F6	chr9:95946067-95946865	A549	lung:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
7	E2F6	chr9:95946009-95946844	H1-hESC	embryonic stem cell:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
8	MAX	chr9:95945962-95946939	HepG2	liver:	n/a	chr9:95946413-95946423
9	MAX	chr9:95945830-95947338	HepG2	liver:	n/a	chr9:95946413-95946423
10	RCOR1	chr9:95945995-95946124	Hela-S3	cervix:	n/a	n/a
11	CTBP2	chr9:95945756-95946998	H1-hESC	embryonic stem cell:	n/a	n/a
12	TBP	chr9:95945961-95946183	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF12	chr9:95946018-95946779	ECC-1	luminal epithelium:	n/a	n/a
14	TCF7L2	chr9:95946048-95946927	HCT-116	colon:	n/a	n/a
15	BACH1	chr9:95945961-95946711	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr9:95945961-95946884	ECC-1	luminal epithelium:	n/a	chr9:95946413-95946423
17	MAX	chr9:95946036-95946722	K562	blood:	n/a	chr9:95946413-95946423
18	NFIC	chr9:95945977-95946574	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr9:95945819-95946876	HCT-116	colon:	n/a	chr9:95946413-95946423
20	MAX	chr9:95945813-95946885	MCF-7	breast:	n/a	chr9:95946413-95946423
21	MAX	chr9:95945838-95946889	A549	lung:	n/a	chr9:95946413-95946423
22	TAF1	chr9:95945984-95946765	ECC-1	luminal epithelium:	n/a	n/a
23	MXI1	chr9:95945228-95947541	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr9:95945843-95946441	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95611802..95614664-chr9:95945185..95946709,2	MCF-7	breast:
2	chr9:95945010..95947116-chr9:96042384..96044882,2	MCF-7	breast:
3	chr9:95856307..95858930-chr9:95945344..95947454,2	MCF-7	breast:
4	chr9:95895042..95899051-chr9:95945154..95949540,5	MCF-7	breast:

Variant related genes	Relation type
WNK2	TF binding region
ENSG00000131669	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000223446	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv824983	chr9:95902154-95978408	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv614880	chr9:95930572-95978265	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv3494114	chr9:95945281-95948679	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3494115	chr9:95945281-95948679	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95944400-95946200	Enhancers	Gastric	stomach
2	chr9:95945400-95946200	Enhancers	Fetal Heart	heart
3	chr9:95945600-95946200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:95945600-95946200	Enhancers	Fetal Brain Male	brain
5	chr9:95945600-95946200	Flanking Active TSS	Fetal Brain Female	brain
6	chr9:95945600-95946200	Flanking Active TSS	Right Ventricle	heart
7	chr9:95945600-95946200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
8	chr9:95945600-95946200	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr9:95945600-95946400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr9:95945800-95946200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr9:95945800-95946200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
15	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
16	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
17	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
18	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
19	chr9:95945800-95946200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr9:95945800-95946200	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr9:95945800-95946200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
23	chr9:95945800-95946200	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
25	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
26	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
27	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
28	chr9:95945800-95946200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr9:95945800-95946200	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
30	chr9:95945800-95946200	Flanking Active TSS	Hela-S3	cervix
31	chr9:95945800-95946400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
32	chr9:95945800-95946400	Bivalent Enhancer	Fetal Lung	lung
33	chr9:95945800-95946400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr9:95945800-95946400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr9:95945800-95946400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr9:95945800-95946400	Bivalent Enhancer	Small Intestine	intestine
37	chr9:95945800-95946400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr9:95945800-95947200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:95945800-95947400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:95945800-95947800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr9:95945800-95947800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr9:95945800-95948000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr9:95945800-95949200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr9:95945800-95949600	Active TSS	Brain Cingulate Gyrus	brain
45	chr9:95946000-95946200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr9:95946000-95946200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr9:95946000-95946200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:95946000-95946200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:95946000-95946200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
50	chr9:95946000-95946200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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