Variant report

Variant	rs12818283
Chromosome Location	chr12:105021717-105021718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105016224..105018469-chr12:105021634..105023531,2	MCF-7	breast:
2	chr12:105018222..105019990-chr12:105021264..105025208,3	K562	blood:
3	chr12:105016466..105018476-chr12:105020219..105022177,2	MCF-7	breast:
4	chr12:105020022..105022251-chr12:105023381..105025476,2	K562	blood:

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

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

rs_ID	r²[population]
rs12811699	1.00[EUR][1000 genomes]
rs12814462	1.00[EUR][1000 genomes]
rs12828809	1.00[EUR][1000 genomes]
rs34016841	1.00[EUR][1000 genomes]
rs34536312	1.00[EUR][1000 genomes]
rs35904073	0.89[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:76 , 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	chr12:105000400-105026000	Weak transcription	NHLF	lung
5	chr12:105006000-105028200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:105006200-105034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:105006600-105022600	Weak transcription	Primary B cells from cord blood	blood
8	chr12:105007400-105024400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:105009000-105024400	Weak transcription	Thymus	Thymus
10	chr12:105009400-105028200	Weak transcription	Placenta	Placenta
11	chr12:105010200-105031600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:105011000-105026200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:105013000-105026400	Weak transcription	Fetal Thymus	thymus
14	chr12:105013800-105037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:105014000-105026400	Weak transcription	Brain Angular Gyrus	brain
16	chr12:105015200-105022200	Weak transcription	Small Intestine	intestine
17	chr12:105015800-105022400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:105016000-105031400	Weak transcription	GM12878-XiMat	blood
19	chr12:105016600-105021800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:105016800-105021800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:105016800-105025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:105017000-105023800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:105017000-105025800	Weak transcription	Lung	lung
24	chr12:105017000-105036000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:105017200-105022400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:105017800-105024000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:105018000-105021800	Weak transcription	Brain Substantia Nigra	brain
28	chr12:105018000-105023800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:105018000-105024200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:105018000-105028400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:105018200-105021800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:105018200-105023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:105018200-105023800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:105018200-105026000	Weak transcription	Spleen	Spleen
35	chr12:105018200-105027800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:105018200-105031600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:105018400-105023800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:105018400-105027000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:105018800-105023800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:105018800-105024000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:105019000-105026400	Weak transcription	K562	blood
42	chr12:105019200-105023800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:105019600-105023000	Enhancers	Brain Germinal Matrix	brain
44	chr12:105020200-105023000	Enhancers	Fetal Brain Male	brain
45	chr12:105020200-105023800	Weak transcription	HSMMtube	muscle
46	chr12:105020400-105022800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:105020400-105023800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:105020400-105031400	Weak transcription	A549	lung
49	chr12:105020600-105022000	Weak transcription	NHDF-Ad	bronchial
50	chr12:105020800-105022400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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