Variant report

Variant	rs4411417
Chromosome Location	chr14:55320563-55320564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55318980..55321872-chr14:55325743..55328118,2	K562	blood:
2	chr14:55310463..55313127-chr14:55320351..55323154,2	MCF-7	breast:
3	chr14:55315509..55317878-chr14:55318793..55321643,2	MCF-7	breast:
4	chr14:55319568..55322164-chr14:55323468..55326255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252019	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10131232	0.95[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10133662	0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs10133941	0.84[ASN][1000 genomes]
rs10483639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11626298	0.87[ASN][1000 genomes]
rs11848732	0.85[ASN][1000 genomes]
rs12587434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127992	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17128004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057368	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2057369	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2145945	0.81[ASN][1000 genomes]
rs2149483	0.94[ASN][1000 genomes]
rs2878168	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4462519	0.86[ASN][1000 genomes]
rs55985131	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57875940	0.97[EUR][1000 genomes]
rs58992937	0.85[EUR][1000 genomes]
rs59750960	0.83[EUR][1000 genomes]
rs60851395	0.82[EUR][1000 genomes]
rs67468157	0.92[ASN][1000 genomes]
rs7141685	0.81[ASN][1000 genomes]
rs7144602	0.95[CHB][hapmap]
rs7148266	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151058	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7154323	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7155309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713453	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713456	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713460	0.93[EUR][1000 genomes]
rs72713467	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs752688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8007201	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs841	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9323272	0.81[ASN][1000 genomes]
rs9671371	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9671455	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9671850	0.96[EUR][1000 genomes];0.92[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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv819735	chr14:55319809-55326052	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:55305400-55325800	Weak transcription	Spleen	Spleen
4	chr14:55305800-55321000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:55305800-55326400	Weak transcription	Fetal Thymus	thymus
6	chr14:55306200-55320800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:55306400-55336800	Weak transcription	Dnd41	blood
9	chr14:55306600-55321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:55306600-55336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:55306800-55327400	Weak transcription	Pancreas	Pancrea
12	chr14:55306800-55337000	Weak transcription	Brain Anterior Caudate	brain
13	chr14:55308000-55336600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:55308200-55332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:55308400-55320600	Weak transcription	Primary B cells from cord blood	blood
16	chr14:55308400-55330600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:55308600-55325600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:55308600-55325600	Weak transcription	Lung	lung
19	chr14:55309800-55320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:55309800-55320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:55309800-55321000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:55309800-55325600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:55309800-55325800	Weak transcription	Thymus	Thymus
24	chr14:55311200-55325400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:55311800-55331200	Weak transcription	Hela-S3	cervix
26	chr14:55311800-55337000	Weak transcription	Fetal Intestine Large	intestine
27	chr14:55312800-55324800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:55313000-55322800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr14:55313000-55325600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:55313000-55325800	Weak transcription	Gastric	stomach
31	chr14:55313200-55320600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:55313200-55320800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:55313200-55321000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:55313200-55322800	Weak transcription	Fetal Intestine Small	intestine
35	chr14:55313200-55324200	Weak transcription	Primary T cells from cord blood	blood
36	chr14:55313400-55320800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:55313600-55321000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:55314200-55322600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:55316600-55320600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:55319400-55320600	Weak transcription	GM12878-XiMat	blood
41	chr14:55319600-55324000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:55319600-55324800	Weak transcription	HepG2	liver
43	chr14:55320200-55321600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr14:55320200-55321600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:55320200-55322000	Enhancers	Primary B cells from peripheral blood	blood
46	chr14:55320200-55322800	Weak transcription	Liver	Liver
47	chr14:55320400-55321000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:55320400-55321000	Enhancers	Stomach Mucosa	stomach
49	chr14:55320400-55321200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr14:55320400-55321400	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links