Variant report

Variant	rs1343928
Chromosome Location	chr12:104859492-104859493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104858831..104861040-chr12:104895664..104898086,2	K562	blood:
2	chr12:104858578..104860832-chr12:104863067..104865005,3	K562	blood:
3	chr12:104857257..104859525-chr12:104868712..104871497,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11112067	1.00[AMR][1000 genomes]
rs11112068	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309301	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320787	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322339	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73382371	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73382373	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73382376	0.83[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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:104853400-104862200	Weak transcription	Gastric	stomach
3	chr12:104853400-104863000	Weak transcription	Pancreas	Pancrea
4	chr12:104853400-104863200	Weak transcription	Aorta	Aorta
5	chr12:104853600-104867000	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:104854200-104862600	Weak transcription	Fetal Brain Female	brain
8	chr12:104854200-104867600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:104855200-104861200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:104855200-104861200	Enhancers	Fetal Thymus	thymus
11	chr12:104855200-104863800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:104855200-104868200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:104855200-104868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:104855400-104861400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:104855400-104862200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:104855400-104862800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:104855400-104863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:104855400-104864800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:104855400-104866400	Weak transcription	Brain Germinal Matrix	brain
20	chr12:104855400-104874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:104855400-104874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:104855600-104860600	Weak transcription	HMEC	breast
23	chr12:104855600-104860800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:104856000-104861600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:104856200-104859600	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr12:104856800-104864400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:104856800-104867400	Enhancers	Thymus	Thymus
28	chr12:104857000-104865600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:104857000-104867000	Weak transcription	NH-A	brain
30	chr12:104857000-104868200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:104857000-104873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:104857200-104869200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr12:104857400-104863800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:104857400-104864600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr12:104857400-104866200	Weak transcription	Fetal Stomach	stomach
36	chr12:104857600-104863600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:104857600-104869200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:104857800-104859600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:104857800-104861200	Enhancers	Primary T cells from cord blood	blood
40	chr12:104857800-104861200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr12:104857800-104863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:104857800-104867000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:104857800-104867000	Weak transcription	Left Ventricle	heart
44	chr12:104857800-104867000	Weak transcription	HUVEC	blood vessel
45	chr12:104857800-104871800	Weak transcription	Right Atrium	heart
46	chr12:104857800-104873600	Weak transcription	A549	lung
47	chr12:104858200-104866600	Weak transcription	Placenta	Placenta
48	chr12:104858400-104859600	Enhancers	Duodenum Mucosa	Duodenum
49	chr12:104858600-104859600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr12:104858800-104859600	Flanking Active TSS	Primary B cells from cord blood	blood

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