Variant report

Variant	rs34004149
Chromosome Location	chr12:105027441-105027442
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	chr12:105017373..105020294-chr12:105026070..105029610,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12809841	0.88[EUR][1000 genomes]
rs12814959	0.88[EUR][1000 genomes]
rs34335293	0.81[EUR][1000 genomes]
rs35548330	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35666240	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58788113	0.81[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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 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	chr12:104989400-105030600	Strong transcription	Dnd41	blood
2	chr12:104998800-105031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:105006000-105028200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:105006200-105034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:105009400-105028200	Weak transcription	Placenta	Placenta
6	chr12:105010200-105031600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:105013800-105037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:105016000-105031400	Weak transcription	GM12878-XiMat	blood
9	chr12:105017000-105036000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:105018000-105028400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:105018200-105027800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:105018200-105031600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:105020400-105031400	Weak transcription	A549	lung
14	chr12:105020800-105037800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:105021000-105032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:105021000-105037800	Weak transcription	NHEK	skin
17	chr12:105021800-105027600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:105022000-105030800	Weak transcription	Right Atrium	heart
19	chr12:105022400-105028400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:105022400-105048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:105022800-105031400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:105022800-105043200	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:105023000-105029200	Weak transcription	Fetal Brain Female	brain
24	chr12:105023000-105036800	Weak transcription	Primary T cells from cord blood	blood
25	chr12:105023200-105031600	Weak transcription	Primary B cells from cord blood	blood
26	chr12:105024400-105029800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:105024600-105028200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:105024600-105031600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:105024600-105044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:105024800-105029000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:105024800-105030200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:105024800-105038200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:105025200-105029000	Weak transcription	Brain Germinal Matrix	brain
34	chr12:105025200-105029200	Weak transcription	Thymus	Thymus
35	chr12:105025400-105030600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:105025800-105029800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:105026200-105027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:105026200-105033200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:105026600-105027800	Enhancers	Lung	lung
40	chr12:105026600-105031800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:105026800-105027600	Weak transcription	Spleen	Spleen
42	chr12:105026800-105027600	Weak transcription	K562	blood
43	chr12:105026800-105027800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:105026800-105031400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:105026800-105031400	Weak transcription	Left Ventricle	heart
46	chr12:105026800-105031600	Weak transcription	Small Intestine	intestine
47	chr12:105026800-105031800	Weak transcription	Fetal Brain Male	brain
48	chr12:105026800-105036800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:105027000-105027600	Enhancers	Colonic Mucosa	Colon
50	chr12:105027000-105028000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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