Variant report

Variant	rs548035938
Chromosome Location	chr9:96717980-96717981
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	JUND	chr9:96717943-96718121	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr9:96717488-96717998	A549	lung:	n/a	n/a
3	ZNF143	chr9:96717758-96718085	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:96717698-96718084	PANC-1	pancreas:	n/a	n/a
5	TCF7L2	chr9:96717737-96718216	PANC-1	pancreas:	n/a	n/a
6	E2F6	chr9:96717588-96718179	A549	lung:	n/a	n/a
7	MAX	chr9:96717543-96718283	ECC-1	luminal epithelium:	n/a	chr9:96718083-96718093 chr9:96717947-96717956
8	ZBTB7A	chr9:96717542-96718338	ECC-1	luminal epithelium:	n/a	chr9:96717635-96717644
9	CREB1	chr9:96717701-96718246	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr9:96716169-96718368	Hela-S3	cervix:	n/a	n/a
11	E2F6	chr9:96717620-96718035	A549	lung:	n/a	n/a
12	MAX	chr9:96717625-96718311	ECC-1	luminal epithelium:	n/a	chr9:96718083-96718093 chr9:96717947-96717956
13	NFIC	chr9:96717683-96718044	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr9:96717779-96718291	H1-neurons	neurons:	n/a	n/a
15	MAX	chr9:96717738-96718009	H1-hESC	embryonic stem cell:	n/a	chr9:96717947-96717956
16	USF1	chr9:96717697-96718011	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr9:96717769-96718089	A549	lung:	n/a	chr9:96717947-96717956
18	ZBTB7A	chr9:96717532-96718337	ECC-1	luminal epithelium:	n/a	chr9:96717635-96717644
19	MAX	chr9:96717691-96718261	A549	lung:	n/a	chr9:96718083-96718093 chr9:96717947-96717956
20	MAX	chr9:96717597-96718204	H1-hESC	embryonic stem cell:	n/a	chr9:96718083-96718093 chr9:96717947-96717956
21	POLR2A	chr9:96717784-96718023	A549	lung:	n/a	n/a
22	POLR2A	chr9:96717765-96718115	H1-neurons	neurons:	n/a	n/a
23	SIN3A	chr9:96717750-96718284	H1-hESC	embryonic stem cell:	n/a	chr9:96717791-96717800
24	CTBP2	chr9:96717720-96718392	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr9:96717718-96718119	ECC-1	luminal epithelium:	n/a	n/a
26	CREB1	chr9:96717840-96718132	A549	lung:	n/a	n/a
27	POLR2A	chr9:96717435-96718196	HEK293	kidney:	n/a	n/a
28	MAX	chr9:96717509-96718383	A549	lung:	n/a	chr9:96718083-96718093 chr9:96717947-96717956
29	SUZ12	chr9:96717789-96718414	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr9:96717716-96718108	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96709646..96715968-chr9:96715980..96721050,10	MCF-7	breast:
2	chr9:96713619..96716485-chr9:96717370..96719166,2	K562	blood:

Variant related genes	Relation type
ENSG00000235601	TF binding region
BARX1	TF binding region
ENSG00000131668	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv824993	chr9:96699362-96725105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893590	chr9:96701287-96729129	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3442102	chr9:96716156-96718704	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3412213	chr9:96716656-96718704	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96713800-96718400	Bivalent Enhancer	Lung	lung
2	chr9:96715000-96718800	Bivalent Enhancer	Spleen	Spleen
3	chr9:96716200-96718200	Active TSS	Osteobl	bone
4	chr9:96716400-96718400	Active TSS	Hela-S3	cervix
5	chr9:96716400-96718600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr9:96716400-96718600	Bivalent/Poised TSS	Fetal Stomach	stomach
7	chr9:96716400-96718800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr9:96716800-96718400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr9:96716800-96718400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:96716800-96718400	Active TSS	A549	lung
11	chr9:96717000-96718000	Bivalent/Poised TSS	Psoas Muscle	Psoas
12	chr9:96717000-96718000	Active TSS	Right Atrium	heart
13	chr9:96717000-96718200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:96717000-96718200	Bivalent/Poised TSS	Ovary	ovary
15	chr9:96717000-96718400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr9:96717000-96718800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
17	chr9:96717000-96719200	Active TSS	Stomach Smooth Muscle	stomach
18	chr9:96717200-96718000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:96717200-96718000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:96717200-96718000	Active TSS	Aorta	Aorta
21	chr9:96717400-96718000	Bivalent/Poised TSS	Thymus	Thymus
22	chr9:96717600-96718400	Bivalent/Poised TSS	HSMM	muscle
23	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:96717800-96718000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:96717800-96718000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:96717800-96718000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr9:96717800-96718000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:96717800-96718000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr9:96717800-96718000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
35	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
36	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
38	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr9:96717800-96718000	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
40	chr9:96717800-96718000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr9:96717800-96718000	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
43	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Liver	Liver
46	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
47	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr9:96717800-96718000	Flanking Active TSS	Esophagus	oesophagus
49	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr9:96717800-96718000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney

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