Variant report

Variant	rs11168773
Chromosome Location	chr12:49277829-49277830
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49246388..49252218-chr12:49276087..49280065,7	MCF-7	breast:
2	chr12:49275956..49279461-chr12:49283300..49286531,4	MCF-7	breast:
3	chr12:49253798..49263932-chr12:49272568..49285670,39	MCF-7	breast:
4	chr12:49253541..49263542-chr12:49271204..49284916,35	MCF-7	breast:
5	chr12:49244448..49248825-chr12:49273797..49278851,6	MCF-7	breast:
6	chr12:49276917..49280280-chr12:49283219..49286162,3	K562	blood:
7	chr12:49250519..49252141-chr12:49277437..49280181,2	MCF-7	breast:
8	chr12:49265197..49267414-chr12:49276769..49280973,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172602	Chromatin interaction
ENSG00000199394	Chromatin interaction
ENSG00000174243	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10783287	0.92[ASN][1000 genomes]
rs10783289	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10875883	0.98[ASN][1000 genomes]
rs12369505	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2446985	0.90[ASN][1000 genomes]
rs2446986	0.94[ASN][1000 genomes]
rs2446987	0.96[ASN][1000 genomes]
rs2446999	0.94[ASN][1000 genomes]
rs2447000	0.98[ASN][1000 genomes]
rs2447001	0.99[ASN][1000 genomes]
rs2453476	0.95[ASN][1000 genomes]
rs2926806	0.94[ASN][1000 genomes]
rs2934998	0.94[ASN][1000 genomes]
rs3958875	0.94[ASN][1000 genomes]
rs4760647	0.92[ASN][1000 genomes]
rs833476	0.99[ASN][1000 genomes]
rs833478	0.97[ASN][1000 genomes]
rs833479	0.98[ASN][1000 genomes]
rs833483	0.95[ASN][1000 genomes]
rs833484	0.95[ASN][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	nsv469373	chr12:49256792-49285390	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	nsv558832	chr12:49256792-49285390	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
3	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49271400-49278200	Enhancers	Liver	Liver
2	chr12:49274000-49278800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:49275000-49278600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:49275200-49278200	Enhancers	Fetal Intestine Large	intestine
5	chr12:49275200-49278200	Enhancers	Fetal Intestine Small	intestine
6	chr12:49275400-49278200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:49275600-49278000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:49275600-49278000	Enhancers	Fetal Lung	lung
9	chr12:49275600-49278000	Enhancers	Lung	lung
10	chr12:49275600-49278000	Enhancers	Pancreas	Pancrea
11	chr12:49275600-49278200	Flanking Active TSS	A549	lung
12	chr12:49275800-49278000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:49275800-49278000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:49275800-49278000	Enhancers	Duodenum Mucosa	Duodenum
15	chr12:49275800-49278200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:49275800-49278200	Enhancers	Brain Angular Gyrus	brain
17	chr12:49275800-49278200	Enhancers	Fetal Brain Male	brain
18	chr12:49275800-49278200	Enhancers	K562	blood
19	chr12:49276000-49278000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:49276000-49278000	Enhancers	Fetal Brain Female	brain
21	chr12:49276000-49278200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr12:49276200-49278000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:49276200-49278400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:49276400-49278000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:49276400-49278200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr12:49276400-49278200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:49276400-49278400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:49276600-49278000	Enhancers	Fetal Kidney	kidney
29	chr12:49276600-49278200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:49276600-49278400	Enhancers	Stomach Mucosa	stomach
31	chr12:49277000-49278000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:49277000-49278200	Enhancers	HUVEC	blood vessel
33	chr12:49277200-49278000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:49277200-49278000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:49277200-49278000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:49277200-49278000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr12:49277200-49278200	Flanking Active TSS	HepG2	liver
38	chr12:49277400-49278000	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr12:49277400-49278000	Enhancers	NH-A	brain
40	chr12:49277400-49279600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:49277600-49278000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:49277600-49278000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:49277600-49278000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr12:49277600-49278000	Enhancers	Fetal Muscle Leg	muscle
45	chr12:49277600-49278800	Weak transcription	Left Ventricle	heart
46	chr12:49277800-49278000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr12:49277800-49278000	Enhancers	Gastric	stomach
48	chr12:49277800-49278400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr12:49277800-49283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:49277800-49284800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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