Variant report

Variant	rs73340395
Chromosome Location	chr12:56611059-56611060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56606878..56611530-chr12:56612338..56617285,8	K562	blood:
2	chr12:56609459..56612925-chr12:56614221..56618096,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181852	Chromatin interaction
ENSG00000139579	Chromatin interaction

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

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

rs_ID	r²[population]
rs1274494	0.83[EUR][1000 genomes]
rs66864435	0.97[AFR][1000 genomes]
rs73342303	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73342304	1.00[EUR][1000 genomes]
rs773643	0.91[AFR][1000 genomes]
rs773645	0.83[AFR][1000 genomes]
rs773649	0.83[AFR][1000 genomes]
rs773662	0.97[AFR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56585000-56614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56592600-56613600	Weak transcription	Right Atrium	heart
3	chr12:56597800-56611600	Strong transcription	Primary T cells from cord blood	blood
4	chr12:56597800-56611600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:56597800-56611800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:56597800-56611800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:56597800-56611800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:56597800-56611800	Strong transcription	Fetal Muscle Leg	muscle
9	chr12:56597800-56611800	Strong transcription	Fetal Thymus	thymus
10	chr12:56597800-56612000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:56598000-56611600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:56598000-56611600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:56598000-56611600	Strong transcription	Fetal Brain Female	brain
14	chr12:56598000-56611600	Strong transcription	Fetal Intestine Large	intestine
15	chr12:56598000-56611600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr12:56598000-56611800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr12:56598000-56613600	Strong transcription	Fetal Stomach	stomach
18	chr12:56598200-56611800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:56598200-56611800	Strong transcription	Placenta	Placenta
20	chr12:56598200-56611800	Strong transcription	Thymus	Thymus
21	chr12:56598200-56613800	Strong transcription	Fetal Intestine Small	intestine
22	chr12:56598400-56611400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:56598400-56611800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:56598400-56611800	Strong transcription	Brain Germinal Matrix	brain
25	chr12:56599200-56614000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:56600000-56611800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:56600400-56611600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:56600400-56612400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:56601200-56613800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:56601600-56611400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:56601600-56611800	Strong transcription	Osteobl	bone
32	chr12:56601800-56614400	Weak transcription	Psoas Muscle	Psoas
33	chr12:56603400-56611800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:56603800-56611800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:56603800-56611800	Strong transcription	Ovary	ovary
36	chr12:56604200-56611400	Strong transcription	Lung	lung
37	chr12:56604400-56611600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:56604600-56611400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr12:56606600-56611600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:56606600-56613400	Weak transcription	Fetal Heart	heart
41	chr12:56607000-56614800	Weak transcription	Small Intestine	intestine
42	chr12:56607800-56614200	Weak transcription	Stomach Mucosa	stomach
43	chr12:56607800-56614400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:56607800-56614400	Weak transcription	NHDF-Ad	bronchial
45	chr12:56607800-56614600	Weak transcription	Esophagus	oesophagus
46	chr12:56608000-56614400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:56608000-56614400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:56608000-56614400	Weak transcription	HMEC	breast
49	chr12:56608000-56614600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:56609000-56613400	Weak transcription	Fetal Brain Male	brain

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