Variant report

Variant	rs12449529
Chromosome Location	chr17:46201311-46201312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46123246..46128677-chr17:46197755..46203630,8	MCF-7	breast:
2	chr17:46177666..46179488-chr17:46200620..46202273,2	MCF-7	breast:
3	chr17:46183960..46186242-chr17:46200589..46203810,3	K562	blood:
4	chr17:46102851..46105550-chr17:46199872..46202014,2	MCF-7	breast:
5	chr17:46197608..46199562-chr17:46200754..46203056,2	MCF-7	breast:
6	chr17:46177057..46179428-chr17:46199731..46201687,2	MCF-7	breast:
7	chr17:46183569..46185892-chr17:46198700..46202089,3	K562	blood:
8	chr17:46187740..46191239-chr17:46199544..46202144,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263412	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11079811	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11079812	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12449324	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12601412	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12948653	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12953085	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1316643	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17619103	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34130316	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34449497	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35371915	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35999311	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7215582	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7221416	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7224648	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:46188200-46207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:46188400-46201400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:46189000-46202600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:46189400-46204200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:46189600-46201800	Strong transcription	Fetal Muscle Leg	muscle
7	chr17:46189800-46202000	Strong transcription	Fetal Stomach	stomach
8	chr17:46190000-46201400	Strong transcription	Lung	lung
9	chr17:46190000-46204800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:46190200-46201600	Strong transcription	Liver	Liver
11	chr17:46190400-46201600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:46190400-46205000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr17:46190800-46201400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:46191200-46201800	Strong transcription	Adipose Nuclei	Adipose
15	chr17:46191200-46220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:46191600-46204600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr17:46191800-46201600	Strong transcription	Primary T cells from cord blood	blood
18	chr17:46191800-46204600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:46192200-46201600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:46192200-46202400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:46192400-46201400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:46192400-46201400	Strong transcription	Fetal Thymus	thymus
23	chr17:46192400-46201600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr17:46192400-46201600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr17:46192400-46204800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:46192400-46205400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr17:46192800-46205600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr17:46194400-46204600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr17:46194800-46201400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr17:46194800-46205000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr17:46195000-46201600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr17:46195400-46201400	Strong transcription	Primary B cells from cord blood	blood
33	chr17:46195600-46201600	Strong transcription	HSMMtube	muscle
34	chr17:46196000-46201400	Strong transcription	NHEK	skin
35	chr17:46196800-46202200	Weak transcription	Stomach Mucosa	stomach
36	chr17:46196800-46204800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:46196800-46208800	Weak transcription	K562	blood
38	chr17:46197800-46221000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr17:46198200-46201600	Strong transcription	Rectal Smooth Muscle	rectum
40	chr17:46198400-46201400	Strong transcription	NH-A	brain
41	chr17:46198400-46201600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:46198400-46201600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:46198400-46201600	Strong transcription	Osteobl	bone
44	chr17:46198400-46204800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:46198600-46201400	Strong transcription	Small Intestine	intestine
46	chr17:46198600-46201600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr17:46198800-46203400	Strong transcription	HMEC	breast
48	chr17:46199000-46201400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr17:46199200-46201600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr17:46199400-46204200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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