Variant report

Variant	rs187310344
Chromosome Location	chr9:97766356-97766357
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	chr9:97766270-97766655	HUVEC	blood vessel:	n/a	n/a
2	SIN3AK20	chr9:97766218-97767008	MCF-7	breast:	n/a	n/a
3	ESR1	chr9:97766280-97766544	T-47D	breast:	n/a	n/a
4	GATA3	chr9:97766040-97766815	MCF-7	breast:	n/a	n/a
5	ARID3A	chr9:97766146-97766825	HepG2	liver:	n/a	n/a
6	SMC3	chr9:97766199-97766991	Hela-S3	cervix:	n/a	n/a
7	GATA3	chr9:97766290-97766542	MCF-7	breast:	n/a	n/a
8	MAX	chr9:97766258-97767040	SK-N-SH	brain:	n/a	n/a
9	ATF3	chr9:97766192-97766782	A549	lung:	n/a	n/a
10	RAD21	chr9:97766239-97766859	Hela-S3	cervix:	n/a	chr9:97766704-97766714
11	RAD21	chr9:97766289-97767005	SK-N-SH_RA	brain:	n/a	chr9:97766704-97766714
12	EP300	chr9:97766155-97767085	ECC-1	luminal epithelium:	n/a	chr9:97766680-97766696
13	UBTF	chr9:97766237-97767980	K562	blood:	n/a	n/a
14	JUND	chr9:97766178-97766552	H1-hESC	embryonic stem cell:	n/a	n/a
15	ETS1	chr9:97766279-97766848	A549	lung:	n/a	chr9:97766716-97766727
16	CTCF	chr9:97766340-97766490	HRPEpiC	eye:	n/a	n/a
17	MYC	chr9:97766335-97766979	K562	blood:	n/a	n/a
18	MXI1	chr9:97766181-97766727	K562	blood:	n/a	n/a
19	RAD21	chr9:97766218-97766997	MCF-7	breast:	n/a	chr9:97766704-97766714
20	POLR2A	chr9:97766117-97768000	ProgFib	skin:	n/a	n/a
21	CEBPB	chr9:97766356-97766596	Hela-S3	cervix:	n/a	n/a
22	TBP	chr9:97766342-97767174	HepG2	liver:	n/a	n/a
23	MAX	chr9:97766261-97767827	HepG2	liver:	n/a	chr9:97767735-97767745
24	CTCF	chr9:97766341-97766537	K562	blood:	n/a	n/a
25	RCOR1	chr9:97766239-97766912	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr9:97766064-97766730	Hela-S3	cervix:	n/a	n/a
27	RFX5	chr9:97766088-97766987	HepG2	liver:	n/a	n/a
28	SIX5	chr9:97765918-97766734	A549	lung:	n/a	n/a
29	HEY1	chr9:97766234-97766996	HepG2	liver:	n/a	chr9:97766677-97766692 chr9:97766679-97766694
30	RAD21	chr9:97766342-97766984	H1-hESC	embryonic stem cell:	n/a	chr9:97766704-97766714
31	CTCF	chr9:97766340-97766490	GM12873	blood:	n/a	n/a
32	POLR2A	chr9:97765950-97767012	HUVEC	blood vessel:	n/a	n/a
33	TCF7L2	chr9:97766193-97766547	PANC-1	pancreas:	n/a	chr9:97766319-97766333 chr9:97766333-97766347
34	POLR2A	chr9:97766071-97767003	ECC-1	luminal epithelium:	n/a	n/a
35	TAF1	chr9:97766312-97766612	SK-N-SH	brain:	n/a	n/a
36	CTCF	chr9:97766280-97766430	HCT-116	colon:	n/a	n/a
37	CTCF	chr9:97766340-97766490	AG09319	gingival:	n/a	n/a
38	EP300	chr9:97766261-97766444	K562	blood:	n/a	n/a
39	HA-E2F1	chr9:97766356-97767869	Hela-S3	cervix:	n/a	chr9:97767133-97767142 chr9:97767139-97767151 chr9:97767538-97767547 chr9:97767164-97767173 chr9:97766836-97766843 chr9:97766836-97766843 chr9:97766903-97766915 chr9:97767512-97767521 chr9:97766836-97766843 chr9:97767691-97767700
40	SP1	chr9:97765773-97767001	A549	lung:	n/a	chr9:97766690-97766699
41	POLR2A	chr9:97765858-97769286	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr9:97766340-97766490	NHLF	lung:	n/a	n/a
43	POLR2A	chr9:97766333-97767062	HepG2	liver:	n/a	n/a
44	RFX5	chr9:97766330-97766660	GM12878	blood:	n/a	n/a
45	RFX5	chr9:97764166-97767012	SK-N-SH	brain:	n/a	chr9:97764370-97764385 chr9:97764370-97764385
46	TBP	chr9:97766284-97767606	K562	blood:	n/a	n/a
47	POLR2A	chr9:97766292-97767194	PANC-1	pancreas:	n/a	n/a
48	MAZ	chr9:97766333-97767713	K562	blood:	n/a	n/a
49	REST	chr9:97765810-97767007	A549	lung:	n/a	n/a
50	POLR2A	chr9:97766051-97769186	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:97316005..97317970-chr9:97766242..97767931,2	MCF-7	breast:
2	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:
3	chr9:97763979..97769403-chr9:97805439..97812937,10	MCF-7	breast:
4	chr9:97765581..97769970-chr9:97809027..97814302,8	MCF-7	breast:
5	chr16:28832667..28835339-chr9:97766191..97767859,2	MCF-7	breast:
6	chr9:97674991..97691307-chr9:97751911..97773298,151	MCF-7	breast:
7	chr17:62222763..62223518-chr9:97766146..97766865,2	Hela-S3	cervix:
8	chr9:97763635..97773461-chr9:97847821..97861280,36	MCF-7	breast:

Variant related genes	Relation type
C9orf3	TF binding region
ENSG00000148120	Chromatin interaction
ENSG00000207617	Chromatin interaction
ENSG00000260796	Chromatin interaction
ENSG00000231806	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000168488	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3393598	chr9:97765956-97768504	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv3399008	chr9:97766206-97768629	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97755200-97766400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:97758400-97766400	Weak transcription	Gastric	stomach
3	chr9:97758600-97766400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:97763400-97766400	Weak transcription	Lung	lung
5	chr9:97763600-97766400	Weak transcription	Psoas Muscle	Psoas
6	chr9:97765000-97768600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:97765000-97770400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr9:97765200-97770600	Active TSS	Aorta	Aorta
9	chr9:97765400-97766400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:97765400-97766400	Weak transcription	Pancreas	Pancrea
11	chr9:97765400-97767800	Active TSS	HSMM	muscle
12	chr9:97765800-97766400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:97765800-97767000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:97765800-97767800	Active TSS	Liver	Liver
15	chr9:97765800-97767800	Active TSS	A549	lung
16	chr9:97765800-97770800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr9:97765800-97772600	Active TSS	Stomach Smooth Muscle	stomach
18	chr9:97766000-97766400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:97766000-97766400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr9:97766000-97766400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
21	chr9:97766000-97766400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr9:97766000-97766400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr9:97766000-97766400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
24	chr9:97766000-97766400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:97766000-97766400	Flanking Active TSS	Fetal Heart	heart
26	chr9:97766000-97766400	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr9:97766000-97766400	Flanking Active TSS	Fetal Lung	lung
28	chr9:97766000-97766400	Active TSS	Fetal Stomach	stomach
29	chr9:97766000-97766400	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr9:97766000-97766400	Flanking Active TSS	Hela-S3	cervix
31	chr9:97766000-97766400	Flanking Active TSS	HepG2	liver
32	chr9:97766000-97766400	Flanking Active TSS	HSMMtube	muscle
33	chr9:97766000-97766400	Flanking Active TSS	NHDF-Ad	bronchial
34	chr9:97766000-97766400	Flanking Active TSS	NHEK	skin
35	chr9:97766000-97766400	Flanking Active TSS	Osteobl	bone
36	chr9:97766000-97766600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:97766000-97766600	Flanking Active TSS	HUVEC	blood vessel
38	chr9:97766000-97766800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr9:97766000-97766800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:97766000-97768200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr9:97766000-97768600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:97766000-97768800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:97766000-97769000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr9:97766000-97769000	Active TSS	GM12878-XiMat	blood
45	chr9:97766000-97770000	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr9:97766000-97770200	Active TSS	Duodenum Mucosa	Duodenum
47	chr9:97766000-97770400	Active TSS	Ovary	ovary
48	chr9:97766000-97770400	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr9:97766000-97770400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr9:97766000-97770400	Active TSS	NHLF	lung

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