Variant report

Variant	rs568317263
Chromosome Location	chr9:95946265-95946266
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	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	HEY1	chr9:95946151-95946628	HepG2	liver:	n/a	chr9:95946445-95946460 chr9:95946530-95946545 chr9:95946413-95946428 chr9:95946494-95946509 chr9:95946480-95946495
4	REST	chr9:95946196-95947337	H1-neurons	neurons:	n/a	chr9:95946370-95946383
5	E2F6	chr9:95946166-95946971	K562	blood:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
6	MAX	chr9:95945873-95946763	ECC-1	luminal epithelium:	n/a	chr9:95946413-95946423
7	FOXP2	chr9:95946254-95946776	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr9:95946245-95946672	HepG2	liver:	n/a	n/a
9	POLR2A	chr9:95946117-95946739	ECC-1	luminal epithelium:	n/a	n/a
10	CREB1	chr9:95946252-95946651	A549	lung:	n/a	n/a
11	POLR2A	chr9:95946239-95946731	HEK293	kidney:	n/a	n/a
12	MAX	chr9:95945951-95946740	A549	lung:	n/a	chr9:95946413-95946423
13	POLR2A	chr9:95946249-95946734	MCF-7	breast:	n/a	n/a
14	MAX	chr9:95945985-95946853	H1-hESC	embryonic stem cell:	n/a	chr9:95946413-95946423
15	POLR2A	chr9:95946224-95946717	ProgFib	skin:	n/a	n/a
16	MAX	chr9:95946174-95946666	Hela-S3	cervix:	n/a	chr9:95946413-95946423
17	EGR1	chr9:95946252-95946559	K562	blood:	n/a	chr9:95946414-95946424 chr9:95946445-95946458 chr9:95946316-95946326
18	RCOR1	chr9:95946166-95946310	HepG2	liver:	n/a	n/a
19	E2F6	chr9:95946067-95946865	A549	lung:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
20	YY1	chr9:95946166-95946877	HepG2	liver:	n/a	chr9:95946448-95946459
21	POLR2A	chr9:95946256-95946688	A549	lung:	n/a	n/a
22	MXI1	chr9:95946069-95946726	HepG2	liver:	n/a	n/a
23	POLR2A	chr9:95946243-95946673	MCF-7	breast:	n/a	n/a
24	E2F6	chr9:95946009-95946844	H1-hESC	embryonic stem cell:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
25	MAX	chr9:95945962-95946939	HepG2	liver:	n/a	chr9:95946413-95946423
26	EGR1	chr9:95946255-95946527	K562	blood:	n/a	chr9:95946414-95946424 chr9:95946445-95946458 chr9:95946316-95946326
27	MAX	chr9:95945830-95947338	HepG2	liver:	n/a	chr9:95946413-95946423
28	CTBP2	chr9:95945756-95946998	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr9:95946142-95946671	HCT-116	colon:	n/a	n/a
30	POLR2A	chr9:95946249-95946624	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZBTB7A	chr9:95946222-95946825	K562	blood:	n/a	n/a
32	TCF12	chr9:95946018-95946779	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr9:95946157-95946637	HCT-116	colon:	n/a	n/a
34	TCF7L2	chr9:95946048-95946927	HCT-116	colon:	n/a	n/a
35	NRF1	chr9:95946145-95946584	SK-N-SH	brain:	n/a	chr9:95946423-95946432 chr9:95946321-95946330
36	BACH1	chr9:95945961-95946711	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr9:95945961-95946884	ECC-1	luminal epithelium:	n/a	chr9:95946413-95946423
38	SMC3	chr9:95946178-95946364	Hela-S3	cervix:	n/a	n/a
39	MAX	chr9:95946036-95946722	K562	blood:	n/a	chr9:95946413-95946423
40	POLR2A	chr9:95946225-95946723	Hela-S3	cervix:	n/a	n/a
41	NFIC	chr9:95945977-95946574	ECC-1	luminal epithelium:	n/a	n/a
42	E2F6	chr9:95946192-95946779	K562	blood:	n/a	chr9:95946607-95946619 chr9:95946606-95946617
43	MAX	chr9:95945819-95946876	HCT-116	colon:	n/a	chr9:95946413-95946423
44	E2F6	chr9:95946248-95946757	K562	blood:	n/a	chr9:95946607-95946619 chr9:95946606-95946617
45	MAX	chr9:95945813-95946885	MCF-7	breast:	n/a	chr9:95946413-95946423
46	MAZ	chr9:95946258-95946639	K562	blood:	n/a	chr9:95946413-95946423
47	MAX	chr9:95946253-95946682	K562	blood:	n/a	chr9:95946413-95946423
48	POLR2A	chr9:95946087-95947453	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr9:95946222-95947011	HepG2	liver:	n/a	n/a
50	IRF1	chr9:95946247-95946571	K562	blood:	n/a	chr9:95946410-95946424 chr9:95946394-95946408

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
ENSG00000165233	Chromatin interaction
ENSG00000131669	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	chr9:95945600-95946400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr9:95945800-95946400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
3	chr9:95945800-95946400	Bivalent Enhancer	Fetal Lung	lung
4	chr9:95945800-95946400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
5	chr9:95945800-95946400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
6	chr9:95945800-95946400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
7	chr9:95945800-95946400	Bivalent Enhancer	Small Intestine	intestine
8	chr9:95945800-95946400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr9:95945800-95947200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:95945800-95947400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:95945800-95947800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr9:95945800-95947800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr9:95945800-95948000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr9:95945800-95949200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr9:95945800-95949600	Active TSS	Brain Cingulate Gyrus	brain
16	chr9:95946000-95946400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:95946000-95946400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
18	chr9:95946000-95946400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
19	chr9:95946000-95946400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
20	chr9:95946000-95946400	Flanking Active TSS	Esophagus	oesophagus
21	chr9:95946000-95946400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr9:95946000-95946400	Flanking Bivalent TSS/Enh	Placenta	Placenta
23	chr9:95946000-95946800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr9:95946000-95946800	Flanking Bivalent TSS/Enh	HMEC	breast
25	chr9:95946000-95946800	Bivalent/Poised TSS	NHEK	skin
26	chr9:95946000-95947000	Active TSS	Fetal Kidney	kidney
27	chr9:95946000-95947200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:95946000-95947200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr9:95946000-95947200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:95946000-95947200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:95946000-95947200	Flanking Active TSS	Lung	lung
32	chr9:95946000-95947200	Active TSS	A549	lung
33	chr9:95946000-95947200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr9:95946000-95947400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:95946000-95947400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:95946000-95947400	Active TSS	Aorta	Aorta
37	chr9:95946000-95947400	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr9:95946000-95947400	Flanking Active TSS	Spleen	Spleen
39	chr9:95946000-95947800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:95946000-95948000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:95946000-95948200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr9:95946200-95946400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:95946200-95946400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:95946200-95946400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:95946200-95946400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
46	chr9:95946200-95946400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr9:95946200-95946400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
48	chr9:95946200-95946400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr9:95946200-95946400	Transcr. at gene 5' and 3'	Right Atrium	heart
50	chr9:95946200-95946400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon

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