Variant report

Variant	rs12315844
Chromosome Location	chr12:50201670-50201671
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50192057..50194728-chr12:50200116..50202021,2	MCF-7	breast:
2	chr12:50200144..50201863-chr12:50219253..50221982,2	MCF-7	breast:
3	chr12:50200354..50203165-chr12:50213791..50216673,2	K562	blood:
4	chr12:50200446..50205468-chr12:50207348..50211696,6	MCF-7	breast:
5	chr12:50198514..50201197-chr12:50201542..50204471,2	MCF-7	breast:
6	chr12:50189974..50194712-chr12:50201594..50205995,4	K562	blood:
7	chr12:50201332..50204489-chr12:50235415..50238606,4	MCF-7	breast:
8	chr12:50200354..50204251-chr12:50212561..50215291,3	K562	blood:
9	chr12:50200740..50202923-chr12:50213695..50216667,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186666	Chromatin interaction
ENSG00000167566	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10875977	1.00[ASN][1000 genomes]
rs11169164	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169165	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169171	1.00[ASN][1000 genomes]
rs12321190	1.00[ASN][1000 genomes]
rs17123990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56751503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57832845	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61691368	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137037	1.00[ASN][1000 genomes]
rs7137262	1.00[ASN][1000 genomes]
rs7313739	1.00[ASN][1000 genomes]
rs73309047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309054	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309090	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310907	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968164	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50174400-50209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:50177800-50203400	Weak transcription	Fetal Kidney	kidney
3	chr12:50179200-50213600	Weak transcription	Hela-S3	cervix
4	chr12:50183200-50203400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:50183400-50202200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:50183400-50202200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:50183400-50202600	Strong transcription	NHLF	lung
8	chr12:50184400-50203200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:50185000-50202400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:50187200-50203000	Strong transcription	Primary T cells from cord blood	blood
11	chr12:50187200-50214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:50189200-50214600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:50190400-50203000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:50191200-50201800	Strong transcription	HSMM	muscle
15	chr12:50192200-50203200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:50192200-50203800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:50193800-50214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:50195200-50218400	Weak transcription	K562	blood
19	chr12:50195600-50202200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:50195800-50202000	Weak transcription	Psoas Muscle	Psoas
21	chr12:50195800-50214400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:50196200-50204000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:50196800-50203600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:50197400-50202200	Weak transcription	Colonic Mucosa	Colon
25	chr12:50197600-50205000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:50197600-50220400	Weak transcription	A549	lung
27	chr12:50197800-50201800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:50198600-50203600	Weak transcription	GM12878-XiMat	blood
29	chr12:50199200-50201800	Weak transcription	Fetal Lung	lung
30	chr12:50199200-50202200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:50199200-50202400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:50199200-50203000	Weak transcription	Aorta	Aorta
33	chr12:50199400-50202200	Weak transcription	NH-A	brain
34	chr12:50199400-50202400	Weak transcription	Esophagus	oesophagus
35	chr12:50199400-50203000	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:50199400-50203000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:50199400-50203400	Weak transcription	HUVEC	blood vessel
38	chr12:50199400-50203600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:50199400-50218400	Weak transcription	HMEC	breast
40	chr12:50199600-50205600	Enhancers	Right Atrium	heart
41	chr12:50199600-50205800	Weak transcription	Primary B cells from cord blood	blood
42	chr12:50199600-50214600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:50199600-50214800	Weak transcription	Liver	Liver
44	chr12:50199800-50201800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:50199800-50201800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:50199800-50201800	Weak transcription	Brain Substantia Nigra	brain
47	chr12:50199800-50202000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:50199800-50202200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:50199800-50202200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:50199800-50202400	Weak transcription	Ovary	ovary

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