Variant report

Variant	rs11208975
Chromosome Location	chr1:67413618-67413619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67394959..67396700-chr1:67412949..67415093,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198160	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11208970	0.91[AMR][1000 genomes]
rs12061039	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071769	0.91[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap]
rs12077222	0.80[AMR][1000 genomes]
rs12083687	0.91[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12090768	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091598	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17097309	0.91[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2104414	0.91[AMR][1000 genomes]
rs7528178	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9660023	0.90[AMR][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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 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	chr1:67396600-67416600	Weak transcription	Spleen	Spleen
2	chr1:67396800-67414400	Weak transcription	Lung	lung
3	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
4	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
6	chr1:67397600-67416600	Weak transcription	Right Ventricle	heart
7	chr1:67397600-67424400	Weak transcription	Colonic Mucosa	Colon
8	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:67398400-67414000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:67399000-67416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
12	chr1:67403200-67419800	Weak transcription	Gastric	stomach
13	chr1:67403200-67429400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:67405200-67431400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:67405600-67445400	Strong transcription	Fetal Thymus	thymus
16	chr1:67406200-67433000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr1:67406400-67414000	Strong transcription	Primary B cells from cord blood	blood
18	chr1:67406400-67439200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr1:67406400-67455600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:67407000-67414400	Weak transcription	Small Intestine	intestine
21	chr1:67407000-67445400	Strong transcription	Dnd41	blood
22	chr1:67407600-67431200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:67408200-67448000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:67408200-67450200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:67409200-67414600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:67409200-67414800	Strong transcription	GM12878-XiMat	blood
27	chr1:67409200-67426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:67409400-67446400	Weak transcription	Brain Angular Gyrus	brain
29	chr1:67409400-67447600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:67409600-67419400	Weak transcription	Fetal Heart	heart
31	chr1:67409600-67430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:67410000-67431200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:67410400-67433000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:67410600-67414600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:67410600-67414600	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:67410600-67414600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:67410600-67415200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:67410600-67419800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:67410600-67446400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr1:67410600-67453200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:67410800-67414600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:67410800-67415400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:67410800-67415400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:67410800-67415400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:67410800-67415600	Strong transcription	K562	blood
46	chr1:67410800-67416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:67410800-67426400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:67411000-67415200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:67411000-67455000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:67411200-67414400	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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