Variant report

Variant	rs2065020
Chromosome Location	chr14:103871723-103871724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103798722..103803234-chr14:103866449..103871829,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10137098	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10146340	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11621406	0.90[AMR][1000 genomes]
rs11625988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12887238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1951393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2065014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2180992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2403175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34721082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4900576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4906326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6575987	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6575989	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6575990	1.00[AMR][1000 genomes]
rs7149291	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7152150	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003497	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2065020	CKB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
2	chr14:103855200-103871800	Weak transcription	Brain Germinal Matrix	brain
3	chr14:103861000-103874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
6	chr14:103865000-103872200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:103867400-103871800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr14:103867600-103871800	Enhancers	Fetal Heart	heart
10	chr14:103868200-103872400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:103868400-103872200	Weak transcription	Placenta	Placenta
12	chr14:103868400-103878400	Weak transcription	Fetal Kidney	kidney
13	chr14:103868400-103880000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:103868400-103883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:103868400-103883800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:103868600-103872200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:103868600-103883200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:103869200-103872200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:103869200-103874400	Weak transcription	HepG2	liver
20	chr14:103869200-103878400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:103869400-103871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:103869400-103874200	Weak transcription	Small Intestine	intestine
23	chr14:103869600-103882800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:103869800-103872000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:103870400-103874000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:103870600-103878400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:103870800-103872000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:103870800-103872000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:103870800-103873400	Weak transcription	Hela-S3	cervix
30	chr14:103870800-103873400	Weak transcription	NH-A	brain
31	chr14:103870800-103874000	Weak transcription	A549	lung
32	chr14:103870800-103883200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:103870800-103883200	Weak transcription	HSMMtube	muscle
34	chr14:103871000-103871800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:103871000-103873200	Weak transcription	Primary T cells from cord blood	blood
36	chr14:103871000-103873400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:103871000-103874200	Weak transcription	K562	blood
38	chr14:103871000-103874800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:103871000-103874800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:103871000-103874800	Weak transcription	Colon Smooth Muscle	Colon
41	chr14:103871000-103875200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:103871000-103875200	Strong transcription	GM12878-XiMat	blood
43	chr14:103871000-103875400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:103871000-103878000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:103871000-103878600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr14:103871000-103883000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:103871000-103883200	Weak transcription	Aorta	Aorta
48	chr14:103871000-103883600	Strong transcription	Dnd41	blood
49	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:103871200-103871800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links