Variant report

Variant	rs60965273
Chromosome Location	chr9:101943923-101943924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr9:101943884-101944084	GM12878	blood:	n/a	n/a
2	RCOR1	chr9:101943834-101944535	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:101943633-101944497	GM12878	blood:	n/a	n/a
4	POU2F2	chr9:101943841-101944396	GM12891	blood:	n/a	n/a
5	YY1	chr9:101943732-101944345	GM12892	blood:	n/a	n/a
6	MXI1	chr9:101943863-101944250	GM12878	blood:	n/a	n/a
7	YY1	chr9:101943815-101944286	GM12891	blood:	n/a	n/a
8	EP300	chr9:101943814-101944331	GM12878	blood:	n/a	n/a
9	YY1	chr9:101943897-101944257	K562	blood:	n/a	n/a
10	POLR2A	chr9:101943746-101944474	GM12892	blood:	n/a	n/a
11	YY1	chr9:101943591-101944386	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr9:101943578-101944567	GM12878	blood:	n/a	n/a
13	TBP	chr9:101943746-101944444	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:101943405-101944472	GM12878	blood:	n/a	n/a
15	POU2F2	chr9:101943762-101944357	GM12878	blood:	n/a	n/a
16	ATF2	chr9:101943710-101944428	GM12878	blood:	n/a	n/a
17	NFYB	chr9:101943742-101943942	GM12878	blood:	n/a	n/a
18	SPI1	chr9:101943906-101944263	GM12878	blood:	n/a	n/a
19	YY1	chr9:101943736-101944308	GM12891	blood:	n/a	n/a
20	CREB1	chr9:101943765-101944383	GM12878	blood:	n/a	n/a
21	EBF1	chr9:101943875-101944287	GM12878	blood:	n/a	n/a
22	CREB1	chr9:101943764-101944419	GM12878	blood:	n/a	n/a
23	ATF2	chr9:101943786-101944473	GM12878	blood:	n/a	n/a
24	PAX5	chr9:101943883-101944318	GM12878	blood:	n/a	n/a
25	CUX1	chr9:101943528-101944399	GM12878	blood:	n/a	n/a
26	EP300	chr9:101943889-101944312	GM12878	blood:	n/a	n/a
27	RUNX3	chr9:101943466-101944423	GM12878	blood:	n/a	n/a
28	TCF12	chr9:101943848-101944249	GM12878	blood:	n/a	n/a
29	WRNIP1	chr9:101943578-101944355	GM12878	blood:	n/a	n/a
30	STAT5A	chr9:101943867-101944459	GM12878	blood:	n/a	n/a
31	BCL3	chr9:101943783-101944306	GM12878	blood:	n/a	n/a
32	POLR2A	chr9:101943852-101944032	GM12878	blood:	n/a	n/a
33	POU2F2	chr9:101943811-101944418	GM12891	blood:	n/a	n/a
34	SP1	chr9:101943795-101944396	GM12878	blood:	n/a	n/a
35	STAT1	chr9:101943720-101944295	GM12878	blood:	n/a	n/a
36	RELA	chr9:101943871-101944347	GM18526	blood:	n/a	n/a
37	NFATC1	chr9:101943691-101944549	GM12878	blood:	n/a	n/a
38	BCLAF1	chr9:101943706-101944403	GM12878	blood:	n/a	n/a
39	MYC	chr9:101943622-101944285	NB4	blood:	n/a	chr9:101943643-101943653
40	MTA3	chr9:101943470-101944463	GM12878	blood:	n/a	n/a
41	RELA	chr9:101942511-101944711	GM18505	blood:	n/a	n/a
42	POLR2A	chr9:101943635-101944414	GM12892	blood:	n/a	n/a
43	MEF2A	chr9:101943783-101944370	GM12878	blood:	n/a	n/a
44	YY1	chr9:101943783-101944292	GM12892	blood:	n/a	n/a
45	CHD1	chr9:101943813-101944630	GM12878	blood:	n/a	n/a
46	CHD2	chr9:101943686-101944342	GM12878	blood:	n/a	n/a
47	STAT5A	chr9:101943758-101944439	GM12878	blood:	n/a	n/a
48	RELA	chr9:101943510-101944402	GM12892	blood:	n/a	n/a
49	MAX	chr9:101943461-101944252	NB4	blood:	n/a	chr9:101943643-101943653
50	POLR2A	chr9:101943920-101943945	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:101937724..101939532-chr9:101941994..101944179,2	K562	blood:
2	chr9:101943057..101944603-chr9:101945420..101948362,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227269	TF binding region
ENSG00000227269	Chromatin interaction
ENSG00000240235	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10121020	0.80[AFR][1000 genomes]
rs10988738	0.98[AFR][1000 genomes]
rs10988742	0.86[AFR][1000 genomes]
rs12336759	0.86[AFR][1000 genomes]
rs12345143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16905728	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16918354	0.89[AMR][1000 genomes]
rs56112438	0.89[AMR][1000 genomes]
rs57839076	0.81[AMR][1000 genomes]
rs7024066	0.89[AMR][1000 genomes]
rs7025181	0.89[AMR][1000 genomes]
rs7035537	0.81[AMR][1000 genomes]
rs73653741	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73653744	0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831666	chr9:101874985-102018690	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101931600-101947000	Weak transcription	Right Atrium	heart
2	chr9:101935200-101947200	Weak transcription	Gastric	stomach
3	chr9:101936600-101949600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr9:101939200-101946400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:101939400-101945400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:101941800-101946800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:101942200-101946800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:101942600-101944600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr9:101942800-101944000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:101942800-101944600	Flanking Active TSS	GM12878-XiMat	blood
11	chr9:101942800-101945000	Enhancers	Primary B cells from peripheral blood	blood
12	chr9:101942800-101945200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:101943000-101944400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:101943000-101944400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:101943000-101944400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:101943000-101944400	Enhancers	Fetal Thymus	thymus
17	chr9:101943200-101945000	Enhancers	Primary hematopoietic stem cells	blood
18	chr9:101943400-101944800	Enhancers	HSMM	muscle
19	chr9:101943400-101945800	Weak transcription	Fetal Intestine Small	intestine
20	chr9:101943400-101945800	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:101943400-101946000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr9:101943400-101946400	Weak transcription	Fetal Stomach	stomach
23	chr9:101943600-101944000	Bivalent Enhancer	NHDF-Ad	bronchial
24	chr9:101943600-101944200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:101943600-101944400	Enhancers	NH-A	brain
26	chr9:101943600-101944800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:101943600-101945000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:101943600-101945000	Enhancers	Primary B cells from cord blood	blood
29	chr9:101943800-101944200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:101943800-101944800	Weak transcription	Fetal Lung	lung
31	chr9:101943800-101945000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:101943800-101946400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:101943800-101946800	Weak transcription	Fetal Intestine Large	intestine

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