Variant report

Variant	rs35483264
Chromosome Location	chr12:104730444-104730445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104680813..104682464-chr12:104729596..104731136,2	K562	blood:
2	chr12:104456835..104459059-chr12:104728852..104730679,2	K562	blood:

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10861184	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10861188	0.87[ASN][1000 genomes]
rs10861201	0.87[ASN][1000 genomes]
rs10861203	0.87[ASN][1000 genomes]
rs11111974	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11111975	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11111999	0.87[ASN][1000 genomes]
rs11112003	0.87[ASN][1000 genomes]
rs1128446	0.87[ASN][1000 genomes]
rs12299450	0.87[ASN][1000 genomes]
rs12302216	0.87[ASN][1000 genomes]
rs12305918	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12307313	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs33937214	0.87[ASN][1000 genomes]
rs4523760	0.87[ASN][1000 genomes]
rs7134193	0.87[ASN][1000 genomes]
rs7296260	0.86[ASN][1000 genomes]
rs73392580	0.85[AMR][1000 genomes]
rs7962942	0.87[ASN][1000 genomes]
rs7974725	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1048075	chr12:104694799-104751460	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv541588	chr12:104694799-104751460	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	esv3498308	chr12:104730345-104732685	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104698400-104747600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:104701600-104733600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:104702000-104733600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:104702400-104746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:104702400-104747400	Strong transcription	Dnd41	blood
6	chr12:104703000-104749200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:104703400-104738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:104703400-104747800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:104703600-104744000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:104703800-104733000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:104704400-104743600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:104704800-104747200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:104709800-104732800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:104709800-104749200	Strong transcription	HUVEC	blood vessel
15	chr12:104715600-104734800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:104716400-104736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:104717600-104744600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:104717600-104746200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:104717800-104733400	Strong transcription	HSMM	muscle
20	chr12:104717800-104744000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:104717800-104746400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:104717800-104747600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr12:104717800-104748000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:104718400-104746200	Strong transcription	Hela-S3	cervix
25	chr12:104718600-104737200	Strong transcription	NHDF-Ad	bronchial
26	chr12:104720600-104739000	Strong transcription	GM12878-XiMat	blood
27	chr12:104721600-104732800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:104721600-104733800	Weak transcription	Brain Substantia Nigra	brain
29	chr12:104721800-104732800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:104721800-104732800	Weak transcription	Esophagus	oesophagus
31	chr12:104721800-104733600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:104721800-104760000	Weak transcription	Stomach Mucosa	stomach
33	chr12:104722000-104731600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:104722200-104732800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:104723400-104732800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:104723800-104730800	Weak transcription	Fetal Kidney	kidney
37	chr12:104723800-104731600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:104723800-104732800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:104724400-104733600	Weak transcription	Fetal Brain Male	brain
40	chr12:104725000-104749400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:104725400-104738400	Strong transcription	NH-A	brain
42	chr12:104726800-104747200	Strong transcription	HepG2	liver
43	chr12:104727000-104731400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:104727000-104733000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:104727000-104734200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:104727200-104731400	Strong transcription	Adipose Nuclei	Adipose
47	chr12:104727200-104733400	Genic enhancers	A549	lung
48	chr12:104727200-104734800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:104727200-104737200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:104727200-104737400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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