Variant report

Variant	rs1347988
Chromosome Location	chr2:173997382-173997383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173972338..173974560-chr2:173994516..173997449,2	K562	blood:
2	chr2:173938732..173942486-chr2:173997338..174001096,5	K562	blood:
3	chr2:173996961..173999501-chr2:174001497..174003387,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11679192	0.81[AFR][1000 genomes]
rs4972530	0.82[AFR][1000 genomes]
rs7604288	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1347988	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
3	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
4	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:173988000-173999200	Weak transcription	Dnd41	blood
6	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
9	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:173991800-173999600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:173991800-174000800	Weak transcription	NH-A	brain
12	chr2:173991800-174005200	Weak transcription	K562	blood
13	chr2:173992000-173999400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:173992000-173999400	Weak transcription	Osteobl	bone
15	chr2:173992000-174000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:173992200-173999200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:173993200-173999400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:173994200-173997600	Enhancers	NHDF-Ad	bronchial
19	chr2:173994200-173998400	Enhancers	Fetal Heart	heart
20	chr2:173995000-173997400	Enhancers	Colon Smooth Muscle	Colon
21	chr2:173995000-173997800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:173995000-173998400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:173995200-173997400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:173995200-173997400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:173995200-173998400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:173995200-173998600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:173995200-174000600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:173995400-173997400	Enhancers	Left Ventricle	heart
29	chr2:173995400-173997400	Enhancers	Psoas Muscle	Psoas
30	chr2:173995400-173998200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:173995800-173997400	Weak transcription	NHLF	lung
32	chr2:173995800-173997600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:173995800-173998000	Weak transcription	GM12878-XiMat	blood
34	chr2:173995800-173999400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:173995800-174000800	Weak transcription	A549	lung
36	chr2:173996000-173999400	Enhancers	NHEK	skin
37	chr2:173996000-174001000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:173996000-174001400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:173996200-173997400	Enhancers	Fetal Brain Male	brain
40	chr2:173996200-173998000	Enhancers	Fetal Brain Female	brain
41	chr2:173996200-173999400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:173996200-174000600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:173996400-173997400	Enhancers	Lung	lung
44	chr2:173996400-174000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:173996600-173997400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:173996600-173997400	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:173996600-173998000	Weak transcription	HMEC	breast
48	chr2:173996600-173999400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:173996600-174001200	Weak transcription	Brain Germinal Matrix	brain
50	chr2:173996600-174012800	Weak transcription	Ovary	ovary

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