Variant report

Variant	rs4346801
Chromosome Location	chr5:118471807-118471808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:118471637-118471817	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118465720..118469192-chr5:118469871..118473875,5	K562	blood:

Variant related genes	Relation type
LAMTOR3P2	TF binding region
RNU6-701P	TF binding region
ENSG00000248979	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12523124	1.00[AFR][1000 genomes]
rs62374139	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62374141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62375087	1.00[AFR][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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118414400-118472200	Weak transcription	Pancreas	Pancrea
3	chr5:118430800-118472200	Weak transcription	Esophagus	oesophagus
4	chr5:118431000-118472200	Weak transcription	Small Intestine	intestine
5	chr5:118438600-118484400	Weak transcription	NHLF	lung
6	chr5:118442200-118472200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:118443200-118472200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:118444000-118472000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:118447400-118485400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:118450400-118496800	Weak transcription	Stomach Mucosa	stomach
11	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:118452800-118472400	Weak transcription	Hela-S3	cervix
13	chr5:118453000-118472400	Weak transcription	Psoas Muscle	Psoas
14	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:118456800-118483200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:118456800-118484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:118457000-118472200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:118457000-118472200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:118464000-118473400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:118465600-118483000	Weak transcription	HUVEC	blood vessel
21	chr5:118465800-118472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:118465800-118472400	Weak transcription	Brain Anterior Caudate	brain
23	chr5:118465800-118472400	Weak transcription	Fetal Brain Male	brain
24	chr5:118467200-118472200	Strong transcription	Adipose Nuclei	Adipose
25	chr5:118467800-118473400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr5:118468400-118473000	Strong transcription	Left Ventricle	heart
27	chr5:118468400-118473800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:118468600-118472400	Strong transcription	Liver	Liver
29	chr5:118468600-118473200	Strong transcription	Fetal Kidney	kidney
30	chr5:118468600-118474000	Strong transcription	Primary T cells from cord blood	blood
31	chr5:118468600-118474000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:118468800-118473400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:118468800-118476800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:118469000-118473800	ZNF genes & repeats	GM12878-XiMat	blood
35	chr5:118469200-118472000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:118469200-118472200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:118469200-118475600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr5:118469200-118476600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr5:118469200-118483600	Weak transcription	Fetal Heart	heart
40	chr5:118469400-118473400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:118469400-118482200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:118469600-118472000	Weak transcription	Brain Angular Gyrus	brain
43	chr5:118469600-118472200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:118469600-118475600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr5:118469600-118476400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr5:118469800-118472000	Weak transcription	Placenta	Placenta
47	chr5:118469800-118472400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr5:118469800-118472400	Weak transcription	HSMMtube	muscle
49	chr5:118469800-118482200	Weak transcription	HSMM	muscle
50	chr5:118469800-118484400	Weak transcription	NHDF-Ad	bronchial

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