Variant report

Variant	rs11835145
Chromosome Location	chr12:48526004-48526005
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: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	chr12:48512350..48514595-chr12:48524789..48526462,2	MCF-7	breast:
2	chr12:48520102..48522830-chr12:48525176..48527649,3	MCF-7	breast:
3	chr12:48499471..48501455-chr12:48525096..48527128,3	MCF-7	breast:
4	chr12:48523386..48526206-chr12:48526341..48529296,3	K562	blood:
5	chr12:48518849..48522822-chr12:48523598..48527122,4	K562	blood:
6	chr12:48511904..48514441-chr12:48524039..48526074,2	MCF-7	breast:
7	chr12:48514233..48517201-chr12:48525385..48527405,2	K562	blood:
8	chr12:48525679..48529309-chr12:48532044..48535896,3	K562	blood:
9	chr12:48524575..48527145-chr12:48529433..48531470,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000079387	Chromatin interaction
ENSG00000152556	Chromatin interaction

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

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

rs_ID	r²[population]
rs11168368	1.00[ASN][1000 genomes]
rs11830088	1.00[ASN][1000 genomes]
rs11830546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11833896	1.00[ASN][1000 genomes]
rs11835282	1.00[ASN][1000 genomes]
rs11835720	1.00[ASN][1000 genomes]
rs11836542	1.00[ASN][1000 genomes]
rs12297117	1.00[ASN][1000 genomes]
rs17122786	1.00[ASN][1000 genomes]
rs34120080	1.00[ASN][1000 genomes]
rs34698661	1.00[ASN][1000 genomes]
rs35445616	1.00[ASN][1000 genomes]
rs35902603	1.00[ASN][1000 genomes]
rs57783574	1.00[ASN][1000 genomes]
rs58373242	1.00[ASN][1000 genomes]
rs58573495	1.00[ASN][1000 genomes]
rs59339937	1.00[ASN][1000 genomes]
rs60894356	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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48513400-48526600	Weak transcription	Spleen	Spleen
2	chr12:48513600-48526400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:48513600-48527000	Weak transcription	Pancreas	Pancrea
4	chr12:48513800-48526400	Weak transcription	Gastric	stomach
5	chr12:48513800-48526600	Weak transcription	Thymus	Thymus
6	chr12:48513800-48526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:48514000-48526400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:48514000-48526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:48514000-48526600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:48514000-48536600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:48514000-48537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:48514200-48527000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:48514400-48526400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:48514600-48526200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:48515600-48535600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:48515800-48535600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:48515800-48545600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:48516200-48529600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:48516200-48545400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:48516200-48547200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:48516400-48529400	Strong transcription	Ovary	ovary
22	chr12:48516400-48529600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:48516400-48535600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:48516400-48535800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:48516400-48542000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:48516400-48545000	Strong transcription	GM12878-XiMat	blood
27	chr12:48516400-48545400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:48516400-48545800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:48516400-48547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:48516400-48547200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:48516400-48547800	Strong transcription	Fetal Stomach	stomach
32	chr12:48516600-48527800	Weak transcription	Small Intestine	intestine
33	chr12:48516600-48536600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:48516600-48543200	Weak transcription	Stomach Mucosa	stomach
35	chr12:48516600-48545400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:48516600-48545600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:48516800-48529400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:48516800-48530400	Strong transcription	Osteobl	bone
39	chr12:48516800-48547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:48517200-48526400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:48517200-48529600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:48517600-48547400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:48518200-48529800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr12:48518600-48547600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:48519000-48527800	Weak transcription	Fetal Thymus	thymus
46	chr12:48519600-48547200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr12:48519800-48529800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:48520000-48529400	Strong transcription	NHEK	skin
49	chr12:48520000-48545600	Strong transcription	Hela-S3	cervix
50	chr12:48520600-48529400	Strong transcription	Fetal Muscle Trunk	muscle

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