Variant report

Variant	rs377470
Chromosome Location	chr12:50339290-50339291
allele	A/C
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50287732..50289351-chr12:50337980..50339700,2	MCF-7	breast:
2	chr12:50338497..50339666-chr12:50360120..50361429,3	MCF-7	breast:
3	chr12:50338925..50340024-chr12:50360474..50361632,7	K562	blood:
4	chr12:50336938..50340319-chr12:50341822..50344338,4	K562	blood:
5	chr12:50260597..50261524-chr12:50339077..50340027,4	K562	blood:
6	chr12:50260668..50261552-chr12:50339046..50340247,7	MCF-7	breast:
7	chr12:50334465..50337544-chr12:50338372..50341772,4	K562	blood:
8	chr12:50331211..50335185-chr12:50337113..50339426,3	MCF-7	breast:
9	chr12:50338558..50341156-chr12:50354977..50356831,3	MCF-7	breast:
10	chr12:50169842..50170749-chr12:50338718..50339494,2	K562	blood:
11	chr12:50339184..50339885-chr12:50463898..50464594,2	MCF-7	breast:
12	chr12:50262671..50263209-chr12:50339105..50339936,2	MCF-7	breast:
13	chr12:50261163..50264047-chr12:50337700..50340324,2	MCF-7	breast:
14	chr12:50338638..50340255-chr12:50342218..50344321,2	K562	blood:
15	chr12:50302479..50304923-chr12:50336805..50339549,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257588	Chromatin interaction
ENSG00000086159	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000161798	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17124193	0.85[ASN][1000 genomes]
rs3759124	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs399023	0.82[EUR][1000 genomes]
rs7305290	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899073	chr12:50335628-50360461	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50336200-50339800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:50336200-50340000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:50336400-50339800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:50337200-50339400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:50338000-50339600	Enhancers	Pancreas	Pancrea
6	chr12:50338000-50340000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr12:50338000-50340600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:50338600-50339400	Enhancers	Left Ventricle	heart
9	chr12:50338800-50339800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:50338800-50340000	Enhancers	K562	blood
11	chr12:50338800-50340200	Enhancers	HUVEC	blood vessel
12	chr12:50338800-50340400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:50338800-50341800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:50338800-50344600	Weak transcription	Spleen	Spleen
15	chr12:50339000-50339400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr12:50339000-50339400	Flanking Active TSS	Right Atrium	heart
17	chr12:50339000-50339400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr12:50339000-50339600	Active TSS	Primary B cells from cord blood	blood
19	chr12:50339000-50339600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:50339000-50339600	Flanking Active TSS	Fetal Brain Female	brain
21	chr12:50339000-50339600	Flanking Active TSS	Fetal Thymus	thymus
22	chr12:50339000-50339800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:50339000-50339800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:50339000-50340000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:50339000-50340000	Enhancers	Colon Smooth Muscle	Colon
26	chr12:50339000-50340000	Enhancers	Stomach Mucosa	stomach
27	chr12:50339000-50340800	Enhancers	Fetal Kidney	kidney
28	chr12:50339200-50339400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:50339200-50339400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:50339200-50339400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:50339200-50339400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:50339200-50339400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:50339200-50339400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:50339200-50339400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr12:50339200-50339400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
36	chr12:50339200-50339400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:50339200-50339400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:50339200-50339400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:50339200-50339400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:50339200-50339400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:50339200-50339400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
42	chr12:50339200-50339400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr12:50339200-50339400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr12:50339200-50339400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:50339200-50339400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:50339200-50339400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr12:50339200-50339400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:50339200-50339400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:50339200-50339400	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr12:50339200-50339400	Flanking Active TSS	Colonic Mucosa	Colon

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