Variant report

Variant	rs2035949
Chromosome Location	chr12:56378968-56378969
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56373854..56376498-chr12:56378002..56380904,2	K562	blood:
2	chr12:56366797..56368622-chr12:56378270..56380653,2	MCF-7	breast:
3	chr12:56378791..56380809-chr12:56434636..56437217,3	MCF-7	breast:
4	chr12:56377224..56379024-chr12:56389533..56391699,2	K562	blood:
5	chr12:56314656..56316887-chr12:56377244..56380237,2	MCF-7	breast:
6	chr12:56137294..56139429-chr12:56377696..56379845,2	K562	blood:
7	chr12:56374242..56375948-chr12:56377137..56379313,2	K562	blood:
8	chr12:56375142..56377081-chr12:56377358..56380445,4	MCF-7	breast:
9	chr12:56374509..56377876-chr12:56378080..56382114,4	MCF-7	breast:
10	chr12:56375563..56379260-chr12:56388752..56391429,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197728	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000237493	Chromatin interaction
ENSG00000257449	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11837183	1.00[EUR][1000 genomes]
rs17118200	1.00[EUR][1000 genomes]
rs3213125	1.00[EUR][1000 genomes]
rs56115949	1.00[EUR][1000 genomes]
rs58717357	1.00[EUR][1000 genomes]
rs60740107	1.00[EUR][1000 genomes]
rs7305481	1.00[EUR][1000 genomes]
rs73324304	1.00[EUR][1000 genomes]
rs901073	1.00[EUR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56368600-56383200	Weak transcription	Gastric	stomach
2	chr12:56368800-56379000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:56369000-56383600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:56369200-56379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:56369200-56380000	Weak transcription	Right Ventricle	heart
6	chr12:56369200-56380400	Weak transcription	Aorta	Aorta
7	chr12:56369200-56383600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:56369200-56384600	Weak transcription	Psoas Muscle	Psoas
9	chr12:56369400-56379400	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:56369400-56381000	Weak transcription	Small Intestine	intestine
11	chr12:56369400-56383400	Weak transcription	Pancreas	Pancrea
12	chr12:56369400-56384200	Weak transcription	Fetal Brain Male	brain
13	chr12:56369400-56389400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:56369800-56389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:56370000-56389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:56370000-56389600	Strong transcription	Fetal Thymus	thymus
17	chr12:56370200-56389600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr12:56370400-56385000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:56370400-56388400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:56370600-56379000	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:56370600-56383200	Weak transcription	HepG2	liver
22	chr12:56370600-56383400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:56370600-56388200	Strong transcription	Dnd41	blood
24	chr12:56370600-56389600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:56370800-56383400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:56371000-56379600	Weak transcription	Right Atrium	heart
27	chr12:56371400-56381800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:56371400-56389600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:56371600-56383400	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:56371600-56388800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:56371800-56383400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:56372000-56380800	Weak transcription	Ovary	ovary
33	chr12:56372400-56379600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:56372400-56390000	Strong transcription	Placenta	Placenta
35	chr12:56372800-56386200	Strong transcription	Fetal Intestine Large	intestine
36	chr12:56372800-56389400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:56372800-56389600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:56372800-56389600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:56373200-56386600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr12:56373400-56389400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:56373400-56389600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:56373600-56383400	Weak transcription	Stomach Mucosa	stomach
43	chr12:56373600-56388600	Strong transcription	Liver	Liver
44	chr12:56373800-56386000	Strong transcription	Fetal Intestine Small	intestine
45	chr12:56374000-56388600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:56374000-56389600	Strong transcription	Fetal Stomach	stomach
47	chr12:56374200-56388800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:56375200-56379400	Strong transcription	Fetal Brain Female	brain
49	chr12:56375200-56381000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr12:56375400-56379000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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