Variant report

Variant	rs12068250
Chromosome Location	chr1:151543447-151543448
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151482728..151486205-chr1:151540004..151544693,5	MCF-7	breast:
2	chr1:151542468..151544552-chr1:151811303..151812825,2	MCF-7	breast:
3	1:151368336-151375897..1:151542198-151546427	Hela-S3	cervix:
4	1:151516085-151535167..1:151542198-151546427	Hela-S3	cervix:
5	1:151219411-151234038..1:151542198-151546427	GM12878	blood:
6	chr1:151514211..151516187-chr1:151541825..151543936,2	MCF-7	breast:
7	1:151496437-151509688..1:151542198-151546427	Hela-S3	cervix:
8	chr1:151415037..151418672-chr1:151540855..151543962,3	MCF-7	breast:
9	1:151333184-151350267..1:151542198-151546427	GM12878	blood:
10	chr1:151531743..151533271-chr1:151541571..151544265,2	MCF-7	breast:
11	1:151411623-151426875..1:151542198-151546427	GM12878	blood:
12	chr1:151535253..151539972-chr1:151541025..151545495,6	MCF-7	breast:
13	chr1:151541632..151544049-chr1:151545591..151549035,3	MCF-7	breast:
14	chr1:151539929..151545457-chr1:151553538..151558687,9	MCF-7	breast:
15	1:151270864-151283078..1:151542198-151546427	Hela-S3	cervix:
16	chr1:151537367..151539480-chr1:151541613..151543585,2	K562	blood:
17	chr1:151510961..151514204-chr1:151540033..151544637,10	MCF-7	breast:
18	chr1:151514171..151515908-chr1:151540816..151544051,3	MCF-7	breast:
19	1:151254384-151268403..1:151542198-151546427	Hela-S3	cervix:
20	chr1:151539684..151544323-chr1:151552691..151557234,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143375	Chromatin interaction
ENSG00000265753	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000159377	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11204851	1.00[AFR][1000 genomes]
rs7540761	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
2	chr1:151520600-151545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
4	chr1:151532200-151546400	Weak transcription	Spleen	Spleen
5	chr1:151532600-151551200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:151533000-151557200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:151533800-151561600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:151534200-151549400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:151534200-151550200	Strong transcription	Stomach Smooth Muscle	stomach
10	chr1:151535000-151547000	Strong transcription	HSMMtube	muscle
11	chr1:151535600-151547000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:151535800-151561800	Weak transcription	Brain Substantia Nigra	brain
13	chr1:151536000-151544600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:151536000-151546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:151536000-151547000	Strong transcription	Placenta	Placenta
16	chr1:151536400-151546000	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr1:151537000-151556800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:151537400-151556000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:151537400-151558400	Weak transcription	Fetal Kidney	kidney
20	chr1:151537600-151546800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:151538000-151546400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:151538000-151557400	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:151538200-151543800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:151538200-151545200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:151538600-151546800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:151538800-151544800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:151538800-151548800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:151539000-151546400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:151539000-151556400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:151539000-151557000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:151539600-151545200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:151539600-151546600	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:151539600-151547000	Weak transcription	Brain Anterior Caudate	brain
34	chr1:151539600-151555400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:151540000-151546400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:151540200-151545400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:151540400-151544200	Enhancers	HMEC	breast
38	chr1:151540600-151544400	Genic enhancers	NHEK	skin
39	chr1:151541000-151543800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:151541000-151552600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:151541000-151553200	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:151541200-151545600	Strong transcription	NH-A	brain
43	chr1:151541200-151557000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:151541400-151543600	Genic enhancers	Esophagus	oesophagus
45	chr1:151541400-151543800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:151541400-151556400	Strong transcription	Fetal Stomach	stomach
47	chr1:151541600-151543600	Genic enhancers	Duodenum Mucosa	Duodenum
48	chr1:151542000-151543600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:151542000-151543800	Genic enhancers	Fetal Intestine Large	intestine
50	chr1:151542000-151545600	Weak transcription	K562	blood

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