Variant report

Variant	rs757344
Chromosome Location	chr12:48206096-48206097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48194186..48197622-chr12:48205034..48208393,5	K562	blood:
2	chr12:48153014..48156848-chr12:48203481..48206772,3	K562	blood:
3	chr12:48099357..48101447-chr12:48205677..48208435,2	K562	blood:
4	chr12:48194186..48196955-chr12:48205034..48206864,2	K562	blood:

Variant related genes	Relation type
ENSG00000061273	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000257433	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17122311	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34149349	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	esv999028	chr12:48199301-48209132	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs757344	HDAC7	cis	cerebellum	SCAN
rs757344	SNORA2B	cis	parietal	SCAN
rs757344	ARID2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48182000-48206400	Weak transcription	HepG2	liver
2	chr12:48199400-48206400	Weak transcription	Fetal Brain Female	brain
3	chr12:48199800-48206800	Enhancers	Spleen	Spleen
4	chr12:48200200-48206600	Enhancers	Lung	lung
5	chr12:48201000-48206400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:48201000-48206400	Enhancers	Dnd41	blood
7	chr12:48201200-48206400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:48201200-48206600	Enhancers	Placenta	Placenta
9	chr12:48202400-48206400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:48202400-48208200	Weak transcription	Ovary	ovary
11	chr12:48202600-48206400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:48202800-48206200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:48202800-48206200	Enhancers	Adipose Nuclei	Adipose
14	chr12:48203200-48206200	Enhancers	Primary B cells from cord blood	blood
15	chr12:48203600-48208400	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr12:48203800-48206200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:48203800-48206200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:48203800-48206200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:48203800-48206200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr12:48203800-48206400	Enhancers	Left Ventricle	heart
21	chr12:48203800-48206400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:48203800-48206600	Enhancers	Psoas Muscle	Psoas
23	chr12:48203800-48206800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:48203800-48208200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr12:48203800-48209000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:48203800-48209200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:48204000-48206200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:48204000-48206200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:48204000-48206200	Enhancers	Brain Angular Gyrus	brain
30	chr12:48204000-48206200	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:48204000-48206200	Genic enhancers	A549	lung
32	chr12:48204000-48206400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr12:48204000-48206400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:48204000-48206400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:48204000-48206400	Enhancers	Brain Anterior Caudate	brain
36	chr12:48204000-48206400	Enhancers	Esophagus	oesophagus
37	chr12:48204000-48206400	Genic enhancers	Fetal Stomach	stomach
38	chr12:48204000-48206600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:48204000-48206600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr12:48204000-48206600	Enhancers	Aorta	Aorta
41	chr12:48204000-48206800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr12:48204000-48206800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:48204000-48206800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr12:48204000-48209400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
45	chr12:48204200-48206200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:48204200-48206400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:48204200-48206400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr12:48204200-48206400	Enhancers	Fetal Lung	lung
49	chr12:48204200-48206400	Enhancers	Stomach Mucosa	stomach
50	chr12:48204200-48206600	Enhancers	Cortex derived primary cultured neurospheres	brain

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