Variant report

Variant	rs34316961
Chromosome Location	chr5:179039397-179039398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178977556..178979400-chr5:179037487..179040033,2	K562	blood:
2	chr5:179037627..179040262-chr5:179091207..179093202,2	K562	blood:
3	chr5:179012467..179014455-chr5:179037577..179039741,2	K562	blood:
4	chr5:179036525..179040506-chr5:179125503..179127596,3	K562	blood:
5	chr5:178951958..178953490-chr5:179038317..179039826,2	K562	blood:
6	chr5:178982934..178985451-chr5:179036566..179039640,3	K562	blood:
7	chr5:179038046..179040249-chr5:179091057..179092681,2	K562	blood:
8	chr5:179038238..179040444-chr5:179101128..179103965,2	K562	blood:
9	chr5:179038960..179041938-chr5:179093606..179095921,3	K562	blood:
10	chr5:179037382..179039814-chr5:179164191..179166934,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000127022	Chromatin interaction
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10054335	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11249649	0.81[AMR][1000 genomes]
rs13183244	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4256313	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4701143	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56071539	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62397276	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6895677	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7448707	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
4	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34316961	HNRPH1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
3	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
5	chr5:179007400-179040200	Strong transcription	Placenta	Placenta
6	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:179011200-179043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr5:179012800-179040000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr5:179013800-179044800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:179014000-179042000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:179014000-179044400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:179014000-179046000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:179016000-179041800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:179016200-179045000	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr5:179025200-179045000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:179026600-179040600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:179027600-179039600	Weak transcription	Small Intestine	intestine
20	chr5:179028200-179046200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:179028400-179046000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr5:179028600-179046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:179028800-179045000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr5:179029200-179045600	Strong transcription	Primary B cells from cord blood	blood
25	chr5:179030000-179040800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:179031000-179041000	Genic enhancers	Fetal Muscle Leg	muscle
27	chr5:179031000-179045600	Strong transcription	Osteobl	bone
28	chr5:179031000-179046200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr5:179032200-179045800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:179032200-179046400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:179032400-179039800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:179032400-179045600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr5:179032800-179045000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:179033600-179046000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr5:179034200-179046600	Strong transcription	Colonic Mucosa	Colon
37	chr5:179034600-179043000	Weak transcription	Right Atrium	heart
38	chr5:179035000-179043000	Strong transcription	NH-A	brain
39	chr5:179035200-179044400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:179035200-179045200	Strong transcription	Fetal Brain Female	brain
41	chr5:179035400-179041400	Strong transcription	Aorta	Aorta
42	chr5:179035400-179043200	Strong transcription	GM12878-XiMat	blood
43	chr5:179035600-179043000	Strong transcription	Dnd41	blood
44	chr5:179035600-179043400	Strong transcription	Hela-S3	cervix
45	chr5:179035600-179045000	Strong transcription	Brain Substantia Nigra	brain
46	chr5:179035600-179045000	Strong transcription	Thymus	Thymus
47	chr5:179035600-179045200	Strong transcription	Brain Hippocampus Middle	brain
48	chr5:179035800-179042000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:179035800-179043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:179035800-179046200	Strong transcription	Brain Inferior Temporal Lobe	brain

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