Variant report

Variant	rs7973011
Chromosome Location	chr12:50049857-50049858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:50049168-50050043	HUVEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50038693..50045227-chr12:50048053..50053823,9	K562	blood:
2	chr12:50048532..50051602-chr12:50065327..50069233,3	K562	blood:
3	chr12:50045483..50048300-chr12:50049293..50051484,2	K562	blood:
4	chr12:50049323..50052175-chr12:50062638..50064561,2	K562	blood:
5	chr12:50045240..50047156-chr12:50048407..50050165,2	MCF-7	breast:
6	chr12:50048898..50051795-chr12:50055733..50057406,4	K562	blood:

No data

Variant related genes	Relation type
FMNL3	TF binding region
ENSG00000161791	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11830472	0.87[AFR][1000 genomes]
rs11831670	0.87[AFR][1000 genomes]
rs11831673	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs11832420	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11833472	0.93[AFR][1000 genomes]
rs11834570	1.00[YRI][hapmap]
rs11835085	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs3861577	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs56840810	0.90[AFR][1000 genomes]
rs57489906	0.90[AFR][1000 genomes]
rs7310069	0.90[AFR][1000 genomes]
rs7312037	1.00[YRI][hapmap]
rs7313183	1.00[YRI][hapmap]
rs7960185	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7978381	0.87[AFR][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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50030800-50057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:50031600-50052200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:50031800-50056200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50033200-50052600	Strong transcription	Brain Germinal Matrix	brain
5	chr12:50034200-50053000	Strong transcription	NHLF	lung
6	chr12:50034200-50056200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:50034800-50056400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:50034800-50056600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:50035600-50055000	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr12:50035600-50056400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:50036600-50050800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:50036800-50054600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:50038000-50051800	Weak transcription	Colonic Mucosa	Colon
14	chr12:50038800-50055600	Weak transcription	K562	blood
15	chr12:50038800-50056200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:50039000-50055400	Strong transcription	Dnd41	blood
17	chr12:50039200-50052800	Strong transcription	Thymus	Thymus
18	chr12:50039200-50053600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:50039400-50054600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:50040000-50054400	Strong transcription	Primary B cells from cord blood	blood
21	chr12:50041400-50055200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:50041400-50056200	Strong transcription	NH-A	brain
23	chr12:50041800-50053800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:50041800-50054000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:50042000-50054400	Strong transcription	GM12878-XiMat	blood
26	chr12:50042000-50055800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:50042200-50055200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:50042200-50055800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:50042400-50052400	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr12:50042400-50053400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:50042400-50056400	Strong transcription	HSMM	muscle
32	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
33	chr12:50042600-50050600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:50042600-50053800	Strong transcription	Brain Angular Gyrus	brain
35	chr12:50042600-50055400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:50042800-50056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:50043000-50056000	Strong transcription	HSMMtube	muscle
38	chr12:50043200-50055400	Strong transcription	Fetal Lung	lung
39	chr12:50043200-50055400	Strong transcription	Fetal Stomach	stomach
40	chr12:50043200-50055800	Weak transcription	Stomach Mucosa	stomach
41	chr12:50043600-50056200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:50043800-50055600	Weak transcription	Psoas Muscle	Psoas
43	chr12:50044400-50052400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:50044400-50057000	Weak transcription	Esophagus	oesophagus
45	chr12:50045400-50053000	Strong transcription	Fetal Intestine Small	intestine
46	chr12:50046200-50055200	Weak transcription	Small Intestine	intestine
47	chr12:50046400-50050400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:50046400-50056800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:50046600-50050800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:50046600-50052400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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