Variant report

Variant	rs9497416
Chromosome Location	chr6:146137604-146137605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr6:146137535-146137792	K562	blood:	n/a	n/a
2	FOXA1	chr6:146137373-146137882	HepG2	liver:	n/a	n/a
3	FOXA2	chr6:146137521-146137868	HepG2	liver:	n/a	n/a
4	SRF	chr6:146137581-146137851	HepG2	liver:	n/a	chr6:146137719-146137737
5	FOXA1	chr6:146137385-146137940	HepG2	liver:	n/a	n/a
6	FOXA1	chr6:146137478-146137871	HepG2	liver:	n/a	n/a
7	SRF	chr6:146137517-146137878	HepG2	liver:	n/a	chr6:146137719-146137737
8	POLR2A	chr6:146134981-146137846	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:146134876-146137617	HepG2	liver:	n/a	n/a
10	FOXA1	chr6:146137405-146137931	HepG2	liver:	n/a	n/a
11	MYC	chr6:146137482-146137968	K562	blood:	n/a	n/a
12	TBP	chr6:146137128-146137824	K562	blood:	n/a	n/a
13	POLR2A	chr6:146134474-146137860	K562	blood:	n/a	n/a
14	MXI1	chr6:146134308-146137685	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:146052168..146062191-chr6:146124046..146141258,59	K562	blood:
2	chr6:146047378..146061811-chr6:146118130..146137627,77	K562	blood:
3	chr6:146055814..146058166-chr6:146135376..146138309,3	MCF-7	breast:
4	chr6:146136120..146137977-chr6:146284631..146286434,2	K562	blood:

No data

Variant related genes	Relation type
FBXO30	TF binding region
ENSG00000112425	Chromatin interaction
ENSG00000270828	Chromatin interaction
ENSG00000146414	Chromatin interaction
ENSG00000270638	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs9485012	1.00[AMR][1000 genomes]
rs9485025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9485030	1.00[AFR][1000 genomes]
rs9485038	0.86[AFR][1000 genomes]
rs9497376	1.00[AMR][1000 genomes]
rs9497382	1.00[AMR][1000 genomes]
rs9497405	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497438	0.95[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	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146136600-146138000	Active TSS	Stomach Smooth Muscle	stomach
2	chr6:146136800-146137800	Flanking Active TSS	Brain Angular Gyrus	brain
3	chr6:146136800-146137800	Flanking Active TSS	Rectal Smooth Muscle	rectum
4	chr6:146136800-146137800	Enhancers	Spleen	Spleen
5	chr6:146136800-146137800	Flanking Active TSS	Dnd41	blood
6	chr6:146136800-146137800	Flanking Active TSS	HSMMtube	muscle
7	chr6:146136800-146137800	Flanking Active TSS	K562	blood
8	chr6:146136800-146165200	Weak transcription	Lung	lung
9	chr6:146137000-146137800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:146137000-146137800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:146137000-146137800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:146137000-146137800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:146137000-146137800	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:146137000-146137800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:146137000-146137800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:146137000-146137800	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr6:146137000-146137800	Enhancers	Pancreas	Pancrea
18	chr6:146137000-146137800	Enhancers	Right Ventricle	heart
19	chr6:146137000-146137800	Enhancers	Thymus	Thymus
20	chr6:146137000-146138000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr6:146137000-146147200	Weak transcription	Esophagus	oesophagus
22	chr6:146137000-146150200	Weak transcription	Aorta	Aorta
23	chr6:146137000-146150200	Weak transcription	Ovary	ovary
24	chr6:146137200-146137800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:146137200-146137800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:146137200-146137800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:146137200-146137800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr6:146137200-146137800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:146137200-146137800	Enhancers	Brain Substantia Nigra	brain
30	chr6:146137200-146137800	Enhancers	Fetal Intestine Large	intestine
31	chr6:146137200-146137800	Enhancers	Fetal Lung	lung
32	chr6:146137200-146137800	Enhancers	Fetal Stomach	stomach
33	chr6:146137200-146137800	Enhancers	Left Ventricle	heart
34	chr6:146137200-146137800	Enhancers	Psoas Muscle	Psoas
35	chr6:146137200-146137800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:146137200-146138000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:146137200-146138000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:146137200-146138000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:146137200-146138000	Enhancers	Duodenum Mucosa	Duodenum
40	chr6:146137200-146138000	Enhancers	Fetal Muscle Leg	muscle
41	chr6:146137200-146139800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:146137200-146146800	Weak transcription	HSMM	muscle
43	chr6:146137400-146137800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:146137400-146137800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr6:146137400-146137800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr6:146137400-146137800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:146137400-146137800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:146137400-146137800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:146137400-146137800	Enhancers	Primary T cells from cord blood	blood
50	chr6:146137400-146137800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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