Variant report

Variant	rs17828955
Chromosome Location	chr14:69016645-69016646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69015136..69018224-chr14:69257957..69260697,4	MCF-7	breast:
2	chr14:68752714..68755212-chr14:69016133..69017803,2	MCF-7	breast:
3	chr14:68989438..68991863-chr14:69015676..69017457,2	MCF-7	breast:
4	chr14:69014687..69017316-chr14:69017983..69019961,2	MCF-7	breast:
5	chr14:69014425..69017204-chr14:69022282..69023965,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10483812	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483813	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11621276	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624097	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624164	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624333	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628293	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11844632	0.95[ASN][1000 genomes]
rs12889251	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105780	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17105847	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17755925	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756000	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756147	0.91[AMR][1000 genomes]
rs17828907	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2158357	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34636650	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34882439	0.95[ASN][1000 genomes]
rs36028293	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423314	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71423316	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423317	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423318	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739874	0.82[CEU][hapmap];0.85[AMR][1000 genomes]
rs999737	0.90[CEU][hapmap];0.91[AMR][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	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
3	nsv516239	chr14:69010690-69025870	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69009000-69023600	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69009400-69017600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:69010400-69017000	Enhancers	Pancreas	Pancrea
4	chr14:69010400-69018600	Enhancers	Fetal Stomach	stomach
5	chr14:69010800-69017800	Enhancers	Stomach Mucosa	stomach
6	chr14:69011400-69018000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:69012600-69017200	Enhancers	Lung	lung
8	chr14:69012600-69018400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:69012800-69019400	Enhancers	Left Ventricle	heart
10	chr14:69012800-69022000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr14:69013000-69019200	Enhancers	Right Atrium	heart
12	chr14:69013400-69018600	Enhancers	Ovary	ovary
13	chr14:69013400-69022600	Enhancers	HUVEC	blood vessel
14	chr14:69013600-69019000	Enhancers	Fetal Heart	heart
15	chr14:69013600-69019800	Enhancers	Fetal Kidney	kidney
16	chr14:69013600-69021200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:69013600-69022600	Enhancers	Adipose Nuclei	Adipose
18	chr14:69013800-69017000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:69013800-69017200	Enhancers	Fetal Muscle Trunk	muscle
20	chr14:69013800-69017400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr14:69013800-69017400	Enhancers	Fetal Intestine Large	intestine
22	chr14:69013800-69018200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:69013800-69018200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:69014000-69017400	Enhancers	Fetal Thymus	thymus
25	chr14:69014000-69018200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:69014000-69018400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr14:69014000-69018600	Enhancers	Fetal Brain Male	brain
28	chr14:69014200-69017000	Enhancers	Spleen	Spleen
29	chr14:69014200-69018200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:69014200-69018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:69014200-69018600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:69014200-69021000	Weak transcription	Small Intestine	intestine
33	chr14:69014400-69017800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:69014400-69018800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:69014400-69019400	Enhancers	Placenta	Placenta
36	chr14:69014400-69022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:69014400-69022800	Enhancers	Rectal Smooth Muscle	rectum
38	chr14:69014600-69016800	Weak transcription	HepG2	liver
39	chr14:69014600-69017400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr14:69014600-69017800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr14:69014800-69016800	Enhancers	A549	lung
42	chr14:69015000-69016800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:69015000-69017800	Enhancers	HSMM	muscle
44	chr14:69015400-69020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:69015600-69016800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr14:69015600-69017200	Enhancers	NH-A	brain
47	chr14:69015600-69017400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr14:69015600-69017600	Enhancers	Fetal Intestine Small	intestine
49	chr14:69015600-69017800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:69015600-69018400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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