Variant report

Variant	rs11847185
Chromosome Location	chr14:68927994-68927995
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68604795..68607491-chr14:68924394..68928105,4	MCF-7	breast:
2	chr14:68926331..68929151-chr14:69254236..69257263,3	MCF-7	breast:
3	chr14:68927281..68930277-chr14:68947615..68950464,3	MCF-7	breast:
4	chr14:68661742..68664432-chr14:68925183..68928909,3	MCF-7	breast:
5	chr14:68718829..68724499-chr14:68924135..68928480,8	MCF-7	breast:
6	chr14:68918630..68920344-chr14:68927220..68929899,2	MCF-7	breast:
7	chr14:68863962..68866276-chr14:68924626..68928147,6	MCF-7	breast:
8	chr14:68926283..68928672-chr14:68981647..68983256,2	MCF-7	breast:
9	chr14:68849279..68853036-chr14:68925939..68929072,3	MCF-7	breast:
10	chr14:68924822..68938526-chr14:69257377..69265713,29	MCF-7	breast:
11	chr14:68927072..68929537-chr14:68988559..68991128,2	MCF-7	breast:
12	chr14:68925693..68928632-chr14:68950359..68952999,2	MCF-7	breast:
13	chr14:68771578..68778202-chr14:68921843..68928978,14	MCF-7	breast:
14	chr14:68917247..68930048-chr14:69249444..69264210,56	MCF-7	breast:
15	chr14:68924187..68928322-chr14:68988163..68990816,4	MCF-7	breast:
16	chr14:68407338..68412061-chr14:68925199..68928533,5	MCF-7	breast:
17	chr14:68926500..68929104-chr14:68935803..68938081,2	MCF-7	breast:
18	chr14:68925379..68928137-chr14:69035379..69037742,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10130220	0.84[EUR][1000 genomes]
rs1108007	1.00[JPT][hapmap]
rs11845050	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs11846360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1468278	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17093647	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs17105463	1.00[JPT][hapmap]
rs17105469	1.00[JPT][hapmap]
rs17105515	1.00[JPT][hapmap]
rs17105655	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs17105675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755657	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17755734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17828691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17828721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17828763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331705	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34256824	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190649	0.84[ASN][1000 genomes]
rs3784121	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7149983	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276281	0.84[ASN][1000 genomes]
rs73276290	0.84[ASN][1000 genomes]
rs8013944	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68922200-68937600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:68924600-68931200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr14:68924800-68928800	Enhancers	Fetal Muscle Leg	muscle
4	chr14:68924800-68929800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:68924800-68936000	Enhancers	HSMM	muscle
6	chr14:68925000-68935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:68925400-68928000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:68925400-68928000	Enhancers	Adipose Nuclei	Adipose
9	chr14:68925600-68929400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr14:68926000-68928000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:68926000-68933000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:68926000-68935000	Weak transcription	Fetal Thymus	thymus
13	chr14:68926000-68935200	Weak transcription	Gastric	stomach
14	chr14:68926200-68928000	Enhancers	HUVEC	blood vessel
15	chr14:68926200-68928200	Enhancers	Stomach Smooth Muscle	stomach
16	chr14:68926200-68931600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:68926200-68931600	Weak transcription	Placenta	Placenta
18	chr14:68926200-68931600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:68926200-68933000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:68926200-68933200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:68926200-68935000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:68926200-68940000	Weak transcription	Ovary	ovary
23	chr14:68926400-68928000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:68926400-68928600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:68926400-68928600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:68926400-68928800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:68926400-68931000	Weak transcription	NHDF-Ad	bronchial
28	chr14:68926400-68931200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:68926400-68931200	Weak transcription	NH-A	brain
30	chr14:68926400-68931200	Weak transcription	NHLF	lung
31	chr14:68926400-68931400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:68926400-68933000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:68926400-68933200	Enhancers	HSMMtube	muscle
34	chr14:68926400-68933400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:68926600-68928200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:68926600-68929000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:68926600-68929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:68926600-68930400	Weak transcription	Liver	Liver
39	chr14:68926600-68931600	Enhancers	A549	lung
40	chr14:68926600-68933200	Weak transcription	Fetal Stomach	stomach
41	chr14:68926600-68935600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:68926800-68929200	Weak transcription	NHEK	skin
43	chr14:68926800-68929400	Weak transcription	HMEC	breast
44	chr14:68926800-68930400	Weak transcription	HepG2	liver
45	chr14:68926800-68933200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:68926800-68933200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:68926800-68933200	Weak transcription	Fetal Intestine Small	intestine
48	chr14:68926800-68937600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:68927000-68936600	Weak transcription	Primary B cells from cord blood	blood
50	chr14:68927400-68929000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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