Variant report

Variant	rs7133216
Chromosome Location	chr12:105020574-105020575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105016466..105018476-chr12:105020219..105022177,2	MCF-7	breast:
2	chr12:105020022..105022251-chr12:105023381..105025476,2	K562	blood:
3	chr12:105019261..105021601-chr12:105023611..105025771,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11112131	1.00[EUR][1000 genomes]
rs17035941	1.00[EUR][1000 genomes]
rs59528613	1.00[EUR][1000 genomes]
rs59539976	1.00[EUR][1000 genomes]
rs61741814	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7132779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7297636	1.00[EUR][1000 genomes]
rs7305698	1.00[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:74 , 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	chr12:104999000-105026800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:105000000-105021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:105000400-105026000	Weak transcription	NHLF	lung
6	chr12:105006000-105028200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:105006200-105034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:105006600-105022600	Weak transcription	Primary B cells from cord blood	blood
9	chr12:105007400-105024400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:105009000-105024400	Weak transcription	Thymus	Thymus
11	chr12:105009400-105021200	Weak transcription	Primary T cells from cord blood	blood
12	chr12:105009400-105028200	Weak transcription	Placenta	Placenta
13	chr12:105010200-105031600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:105011000-105026200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:105013000-105026400	Weak transcription	Fetal Thymus	thymus
16	chr12:105013200-105020600	Weak transcription	Aorta	Aorta
17	chr12:105013400-105020600	Weak transcription	Right Ventricle	heart
18	chr12:105013800-105037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:105014000-105026400	Weak transcription	Brain Angular Gyrus	brain
20	chr12:105014200-105020800	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:105015200-105022200	Weak transcription	Small Intestine	intestine
22	chr12:105015800-105021600	Weak transcription	Right Atrium	heart
23	chr12:105015800-105022400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:105016000-105021600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:105016000-105031400	Weak transcription	GM12878-XiMat	blood
26	chr12:105016600-105021800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:105016800-105021800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:105016800-105025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:105017000-105023800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:105017000-105025800	Weak transcription	Lung	lung
31	chr12:105017000-105036000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:105017200-105021400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:105017200-105022400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:105017600-105021000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:105017800-105021600	Enhancers	Brain Anterior Caudate	brain
36	chr12:105017800-105024000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:105018000-105020600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:105018000-105021800	Weak transcription	Brain Substantia Nigra	brain
39	chr12:105018000-105023800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:105018000-105024200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:105018000-105028400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:105018200-105021200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:105018200-105021800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:105018200-105023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:105018200-105023800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:105018200-105026000	Weak transcription	Spleen	Spleen
47	chr12:105018200-105027800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:105018200-105031600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:105018400-105021600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:105018400-105023800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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