Variant report

Variant	rs11097130
Chromosome Location	chr4:88156939-88156940
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:88155381..88158315-chr4:88163823..88166228,2	K562	blood:
2	chr4:88139790..88142257-chr4:88154699..88158342,5	K562	blood:
3	chr4:87925063..87927855-chr4:88154539..88157120,2	MCF-7	breast:
4	chr4:87855284..87857307-chr4:88156806..88158551,2	MCF-7	breast:
5	chr4:88153381..88155637-chr4:88155738..88158294,2	K562	blood:
6	chr4:87843608..87844207-chr4:88156694..88157622,2	K562	blood:
7	chr4:88072030..88072602-chr4:88156658..88157542,4	K562	blood:
8	chr4:88071641..88072544-chr4:88156633..88157658,5	MCF-7	breast:
9	chr4:87843259..87843829-chr4:88156202..88157194,2	MCF-7	breast:
10	chr4:88140757..88143363-chr4:88155950..88159185,5	K562	blood:
11	chr4:88148735..88151393-chr4:88155626..88158606,3	K562	blood:
12	chr4:88071474..88072455-chr4:88156680..88157256,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000145332	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3923441	0.90[JPT][hapmap]
rs4331742	0.90[JPT][hapmap]
rs4345139	0.90[JPT][hapmap]
rs4352444	0.90[JPT][hapmap]
rs7699556	0.89[JPT][hapmap]

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	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1014846	chr4:88151614-88188335	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537170	chr4:88151614-88188335	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11097130	PPM1K	cis	parietal	SCAN
rs11097130	PKD2	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88156400-88157600	Active TSS	Stomach Smooth Muscle	stomach
2	chr4:88156600-88157000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:88156600-88157000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:88156600-88157000	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr4:88156600-88157000	Enhancers	Fetal Heart	heart
6	chr4:88156600-88157000	Flanking Active TSS	A549	lung
7	chr4:88156600-88157000	Flanking Active TSS	Hela-S3	cervix
8	chr4:88156600-88157000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:88156600-88157000	Flanking Active TSS	NHDF-Ad	bronchial
10	chr4:88156600-88157200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr4:88156600-88157400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:88156600-88157400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:88156600-88157400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr4:88156600-88157400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:88156600-88157600	Active TSS	Brain Anterior Caudate	brain
16	chr4:88156600-88157600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr4:88156600-88157600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:88156600-88157600	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr4:88156600-88157800	Active TSS	Primary hematopoietic stem cells	blood
20	chr4:88156600-88157800	Flanking Active TSS	Dnd41	blood
21	chr4:88156800-88157000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:88156800-88157000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr4:88156800-88157000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr4:88156800-88157000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:88156800-88157000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:88156800-88157000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr4:88156800-88157000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:88156800-88157000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:88156800-88157000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:88156800-88157000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr4:88156800-88157000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr4:88156800-88157000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:88156800-88157000	Flanking Active TSS	Fetal Brain Female	brain
34	chr4:88156800-88157000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr4:88156800-88157000	Flanking Active TSS	HMEC	breast
36	chr4:88156800-88157000	Flanking Active TSS	HUVEC	blood vessel
37	chr4:88156800-88157000	Flanking Active TSS	NH-A	brain
38	chr4:88156800-88157000	Flanking Active TSS	NHEK	skin
39	chr4:88156800-88157000	Flanking Active TSS	Osteobl	bone
40	chr4:88156800-88157200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:88156800-88157200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr4:88156800-88157200	Enhancers	Primary B cells from peripheral blood	blood
43	chr4:88156800-88157200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr4:88156800-88157200	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:88156800-88157200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:88156800-88157200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:88156800-88157400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:88156800-88157400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr4:88156800-88157400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:88156800-88157400	Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links