Variant report

Variant	rs418053
Chromosome Location	chr6:13713366-13713367
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr6:13712586-13713446	GM12878	blood:	n/a	chr6:13712763-13712776
2	NR2F2	chr6:13712036-13713392	K562	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13686589..13691071-chr6:13710597..13713720,6	K562	blood:
2	chr6:13703743..13705757-chr6:13712344..13714353,2	MCF-7	breast:
3	chr6:13612439..13617063-chr6:13710643..13713872,7	MCF-7	breast:
4	chr6:13712256..13714398-chr6:13725384..13727195,2	MCF-7	breast:
5	chr6:13613792..13617654-chr6:13711804..13714048,3	K562	blood:
6	chr6:13712562..13715550-chr6:13731027..13734094,5	K562	blood:
7	chr6:13712294..13715235-chr6:13734842..13736345,2	K562	blood:
8	chr6:13612229..13617961-chr6:13707977..13713490,13	K562	blood:
9	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
10	chr6:13272896..13275816-chr6:13711430..13713666,2	K562	blood:
11	chr6:13613655..13618769-chr6:13709987..13714197,10	MCF-7	breast:
12	chr6:13711887..13713957-chr6:13747635..13751147,3	K562	blood:
13	chr6:13667308..13669773-chr6:13712805..13714594,2	K562	blood:
14	chr6:13712160..13713873-chr6:13816640..13818344,2	K562	blood:
15	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
16	chr6:13573221..13576787-chr6:13710917..13713733,6	K562	blood:
17	chr6:13711847..13714774-chr6:13741208..13742857,2	K562	blood:
18	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
19	chr1:65532144..65534298-chr6:13711181..13713399,2	MCF-7	breast:
20	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:

No data

Variant related genes	Relation type
RANBP9	TF binding region
ENSG00000231485	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000233075	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000112137	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000252966	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs204241	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs204243	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs204246	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs204247	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs24023	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368512	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs371729	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376024	0.82[ASN][1000 genomes]
rs379903	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs381560	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394312	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396869	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405447	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420874	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427140	0.93[EUR][1000 genomes]
rs441116	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441125	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495572	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495633	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571676	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	esv3404065	chr6:13709573-13714171	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13712600-13713400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:13712600-13713400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:13712600-13713400	Flanking Active TSS	Dnd41	blood
4	chr6:13712800-13713400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:13712800-13713400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:13712800-13713400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:13712800-13713400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr6:13712800-13713400	Weak transcription	Pancreas	Pancrea
9	chr6:13712800-13713400	Flanking Active TSS	K562	blood
10	chr6:13712800-13715600	Weak transcription	Esophagus	oesophagus
11	chr6:13712800-13715600	Weak transcription	Gastric	stomach
12	chr6:13712800-13716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:13712800-13717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:13713000-13713400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:13713000-13713400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:13713000-13713600	Enhancers	Primary B cells from peripheral blood	blood
17	chr6:13713000-13713600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:13713000-13713600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:13713000-13713800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:13713000-13716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:13713200-13713400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:13713200-13713400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:13713200-13713400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:13713200-13713400	Enhancers	Primary T cells from cord blood	blood
25	chr6:13713200-13713400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:13713200-13713400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:13713200-13713400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:13713200-13713400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:13713200-13713400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:13713200-13713400	Enhancers	Duodenum Mucosa	Duodenum
31	chr6:13713200-13713400	Enhancers	Fetal Intestine Small	intestine
32	chr6:13713200-13713400	Enhancers	Fetal Kidney	kidney
33	chr6:13713200-13713400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:13713200-13713400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr6:13713200-13713400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:13713200-13713400	Enhancers	Hela-S3	cervix
37	chr6:13713200-13713400	Enhancers	HMEC	breast
38	chr6:13713200-13713400	Enhancers	HSMM	muscle
39	chr6:13713200-13713400	Enhancers	HUVEC	blood vessel
40	chr6:13713200-13713600	Enhancers	Primary B cells from cord blood	blood
41	chr6:13713200-13713600	Enhancers	Primary hematopoietic stem cells	blood
42	chr6:13713200-13713600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:13713200-13713600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr6:13713200-13713600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:13713200-13713600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr6:13713200-13713600	Enhancers	Liver	Liver
47	chr6:13713200-13713600	Enhancers	Colonic Mucosa	Colon
48	chr6:13713200-13713600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr6:13713200-13713600	Enhancers	Fetal Intestine Large	intestine
50	chr6:13713200-13713600	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links