Variant report

Variant	rs2976253
Chromosome Location	chr1:186390920-186390921
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	chr1:186381482..186384419-chr1:186389970..186392449,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs16825295	0.88[ASN][1000 genomes]
rs8824	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2976253	PDC	cis	brain	BrainEAC

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
2	chr1:186362400-186405600	Weak transcription	Brain Angular Gyrus	brain
3	chr1:186362800-186405600	Weak transcription	Right Ventricle	heart
4	chr1:186365600-186395200	Weak transcription	Psoas Muscle	Psoas
5	chr1:186366200-186393800	Weak transcription	Lung	lung
6	chr1:186368600-186398200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:186372000-186391000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:186372000-186392000	Weak transcription	Esophagus	oesophagus
9	chr1:186372000-186398200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:186372000-186406000	Weak transcription	Pancreas	Pancrea
11	chr1:186376800-186391800	Weak transcription	HepG2	liver
12	chr1:186376800-186399600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:186379200-186395200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:186379400-186391200	Weak transcription	Fetal Kidney	kidney
15	chr1:186380000-186398800	Weak transcription	Brain Germinal Matrix	brain
16	chr1:186381600-186391800	Weak transcription	Placenta	Placenta
17	chr1:186383000-186391200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:186388600-186399400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:186388600-186404600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:186388600-186408000	Weak transcription	Fetal Brain Female	brain
21	chr1:186388600-186411600	Weak transcription	A549	lung
22	chr1:186388600-186417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:186388800-186391800	Weak transcription	Primary B cells from cord blood	blood
24	chr1:186388800-186393400	Weak transcription	Fetal Heart	heart
25	chr1:186388800-186394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:186388800-186396400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:186388800-186397400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:186388800-186405800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:186388800-186409400	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:186388800-186409400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:186389000-186391200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:186389000-186392200	Weak transcription	HSMMtube	muscle
33	chr1:186389000-186394400	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:186389000-186413000	Weak transcription	Brain Substantia Nigra	brain
35	chr1:186389200-186406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:186389400-186391000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:186389400-186391000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:186389400-186391000	Weak transcription	Fetal Intestine Large	intestine
39	chr1:186389400-186391000	Weak transcription	Thymus	Thymus
40	chr1:186389400-186391800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:186389600-186391000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:186389600-186391200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:186389600-186391200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:186389600-186391200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:186389600-186391200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:186389600-186391200	Weak transcription	Fetal Thymus	thymus
47	chr1:186389600-186391200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:186389600-186391200	Weak transcription	K562	blood
49	chr1:186389600-186391400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:186389600-186391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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