Variant report

Variant	rs34753496
Chromosome Location	chr12:122107318-122107319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121990206..121991149-chr12:122106326..122107539,5	K562	blood:
2	chr12:122063482..122066048-chr12:122105250..122108485,4	MCF-7	breast:
3	chr12:121990012..121991682-chr12:122106273..122107323,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs28429133	1.00[AMR][1000 genomes]
rs55802359	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56740297	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57510086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58214002	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58298336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58437343	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58701599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59126522	1.00[AMR][1000 genomes]
rs59247553	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59378678	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59832608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59867893	1.00[AMR][1000 genomes]
rs60606431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61357438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7133877	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7968374	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974950	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
2	chr12:122091200-122109600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:122097200-122109800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:122097400-122110000	Weak transcription	Esophagus	oesophagus
5	chr12:122097400-122110000	Weak transcription	Right Atrium	heart
6	chr12:122097800-122109400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:122102400-122109800	Weak transcription	Brain Anterior Caudate	brain
8	chr12:122102600-122109800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:122102600-122110000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:122102800-122108600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:122102800-122109400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:122102800-122110000	Weak transcription	Thymus	Thymus
13	chr12:122102800-122110000	Weak transcription	Spleen	Spleen
14	chr12:122103000-122109600	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:122103000-122109800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:122103000-122109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:122103000-122109800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:122103000-122110000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:122103200-122109400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:122103200-122109800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:122103200-122109800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:122103200-122110000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:122103200-122116000	Weak transcription	K562	blood
24	chr12:122104000-122109400	Weak transcription	Dnd41	blood
25	chr12:122104800-122109400	Weak transcription	Primary B cells from cord blood	blood
26	chr12:122104800-122109400	Weak transcription	GM12878-XiMat	blood
27	chr12:122105000-122109800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:122105200-122108000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:122105400-122109400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:122105600-122107600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:122105800-122107400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:122106000-122107400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:122106000-122108400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:122106000-122110000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:122106200-122107600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:122106200-122107600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:122106200-122107600	Flanking Active TSS	Placenta	Placenta
38	chr12:122106400-122107400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr12:122106800-122107400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:122106800-122107400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:122106800-122107400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:122106800-122107600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:122106800-122107600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:122106800-122107600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:122106800-122107600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:122106800-122107600	Flanking Active TSS	HepG2	liver
47	chr12:122106800-122108200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:122106800-122110000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:122106800-122110000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:122107000-122107400	Flanking Active TSS	Fetal Intestine Large	intestine

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