Variant report

Variant	rs12105119
Chromosome Location	chr2:33590950-33590951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33496051..33497746-chr2:33589877..33592347,2	MCF-7	breast:
2	chr2:33516202..33516937-chr2:33590892..33591823,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000049323	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11895736	1.00[ASN][1000 genomes]
rs12105747	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105856	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105947	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17012864	1.00[JPT][hapmap]
rs17012887	1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17012919	0.87[YRI][hapmap]
rs17644939	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1869451	1.00[CEU][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769553	1.00[ASN][1000 genomes]
rs55766721	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55870451	1.00[ASN][1000 genomes]
rs56014485	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56412670	1.00[ASN][1000 genomes]
rs589403	0.80[CEU][hapmap]
rs6719824	0.80[EUR][1000 genomes]
rs72799764	1.00[ASN][1000 genomes]
rs72802025	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72802029	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72802036	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72802037	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33558400-33592200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:33564200-33591600	Weak transcription	Psoas Muscle	Psoas
4	chr2:33571600-33591600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
6	chr2:33581400-33591000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:33581400-33591600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:33581400-33594400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:33581400-33602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:33581600-33591600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:33581600-33592000	Weak transcription	Placenta	Placenta
12	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
13	chr2:33582800-33601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:33584200-33593400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:33585800-33591200	Strong transcription	NH-A	brain
16	chr2:33586000-33591200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:33586200-33603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:33588000-33591800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:33588400-33624400	Weak transcription	Gastric	stomach
20	chr2:33588800-33591200	Weak transcription	HUVEC	blood vessel
21	chr2:33588800-33596000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:33589000-33591000	Genic enhancers	Stomach Smooth Muscle	stomach
23	chr2:33589200-33591600	Weak transcription	HMEC	breast
24	chr2:33589200-33591800	Strong transcription	Fetal Lung	lung
25	chr2:33589200-33598000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:33589400-33591600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:33589400-33591600	Strong transcription	Osteobl	bone
29	chr2:33589400-33591800	Strong transcription	NHLF	lung
30	chr2:33589400-33594800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:33589600-33591200	Weak transcription	HSMM	muscle
32	chr2:33589600-33591200	Weak transcription	NHDF-Ad	bronchial
33	chr2:33589600-33591600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:33589600-33593000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:33589600-33595000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:33589600-33597600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:33590000-33595200	Weak transcription	K562	blood
38	chr2:33590200-33591400	Enhancers	Colon Smooth Muscle	Colon
39	chr2:33590200-33591800	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:33590200-33591800	Enhancers	HSMMtube	muscle
41	chr2:33590400-33591800	Enhancers	Pancreas	Pancrea
42	chr2:33590400-33592000	Enhancers	Brain Anterior Caudate	brain
43	chr2:33590400-33592000	Enhancers	Fetal Heart	heart
44	chr2:33590400-33592000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:33590400-33592000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:33590600-33591600	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr2:33590600-33592400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:33590600-33592600	Enhancers	Brain Hippocampus Middle	brain
49	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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