Variant report

Variant	rs13219839
Chromosome Location	chr6:4940511-4940512
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4936581..4938828-chr6:4939239..4942191,2	MCF-7	breast:
2	chr6:4932686..4935166-chr6:4938029..4940915,3	MCF-7	breast:
3	chr6:4921448..4923447-chr6:4939965..4942220,2	MCF-7	breast:
4	chr6:4929125..4930860-chr6:4939699..4942509,2	MCF-7	breast:
5	chr6:4937204..4938732-chr6:4940412..4941968,2	K562	blood:
6	chr6:4928534..4930964-chr6:4938303..4940745,3	K562	blood:
7	chr6:4934856..4938294-chr6:4940217..4942355,4	K562	blood:
8	chr6:4938946..4941254-chr6:4944002..4946079,2	K562	blood:

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17284610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356900	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35354768	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35924874	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55981530	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56006827	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58567771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66855133	0.84[EUR][1000 genomes]
rs72823968	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13219839	WRNIP1	cis	cerebellum	SCAN
rs13219839	TMEM33	trans	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4913200-4941000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:4915800-4942400	Weak transcription	Aorta	Aorta
3	chr6:4925600-4941600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:4929400-4941600	Weak transcription	Osteobl	bone
5	chr6:4930800-4940600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:4932000-4942000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:4932200-4940800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:4932200-4945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:4932400-4941000	Weak transcription	HSMM	muscle
10	chr6:4932400-4941400	Weak transcription	NHDF-Ad	bronchial
11	chr6:4932400-4941600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:4932400-4942000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:4932400-4942400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:4932600-4940600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:4932600-4941000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:4932600-4942200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:4932600-4944200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:4932600-4944600	Weak transcription	Colonic Mucosa	Colon
19	chr6:4932800-4944400	Weak transcription	Thymus	Thymus
20	chr6:4933000-4942200	Weak transcription	Fetal Intestine Large	intestine
21	chr6:4933000-4944400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:4933200-4940600	Weak transcription	HMEC	breast
23	chr6:4933200-4941600	Weak transcription	Ovary	ovary
24	chr6:4933400-4941000	Weak transcription	Psoas Muscle	Psoas
25	chr6:4933400-4941800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:4933400-4942000	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:4933400-4944600	Weak transcription	Pancreas	Pancrea
28	chr6:4933600-4940800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:4933600-4941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:4933600-4942400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:4933600-4950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:4933800-4940800	Weak transcription	Hela-S3	cervix
33	chr6:4933800-4941000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:4933800-4941400	Weak transcription	Right Ventricle	heart
35	chr6:4933800-4944400	Weak transcription	Gastric	stomach
36	chr6:4934200-4941400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:4934200-4941400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:4934200-4943000	Weak transcription	Right Atrium	heart
39	chr6:4934400-4940800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:4935000-4941800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:4935400-4941400	Weak transcription	HSMMtube	muscle
42	chr6:4936000-4942200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:4936200-4940800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:4936200-4942400	Weak transcription	Lung	lung
45	chr6:4936400-4941000	Weak transcription	Spleen	Spleen
46	chr6:4936400-4941400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:4936400-4941400	Weak transcription	Left Ventricle	heart
48	chr6:4936400-4941800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:4936400-4942400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:4936400-4942400	Weak transcription	Esophagus	oesophagus

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