Variant report

Variant	rs4917683
Chromosome Location	chr10:97034610-97034611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97030116..97038568-chr10:97046190..97052064,12	MCF-7	breast:
2	chr10:97033378..97035939-chr10:97049305..97051881,3	MCF-7	breast:
3	chr10:97034466..97036166-chr10:97046747..97048932,2	K562	blood:

Variant related genes	Relation type
ENSG00000107438	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10786195	0.85[JPT][hapmap]
rs10882572	0.88[CHB][hapmap]
rs11188255	0.84[JPT][hapmap]
rs11488749	0.85[ASN][1000 genomes]
rs11596737	0.88[CHB][hapmap]
rs11596853	0.88[CHB][hapmap]
rs12413028	0.88[CHB][hapmap]
rs12415795	0.88[CHB][hapmap]
rs12776258	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1385065	0.85[JPT][hapmap]
rs1887182	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7089314	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs900786	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS 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	15 gene(s)	inside rSNPs	diseases
2	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4917683	PDLIM1	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97016800-97036000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:97021400-97036400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:97024400-97035000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:97024800-97049400	Weak transcription	Fetal Kidney	kidney
5	chr10:97026800-97036000	Weak transcription	Fetal Lung	lung
6	chr10:97027400-97035800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:97028600-97036200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:97028600-97036200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:97028600-97038200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:97028800-97036000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:97029000-97036000	Weak transcription	Fetal Thymus	thymus
12	chr10:97029000-97039200	Weak transcription	Fetal Muscle Leg	muscle
13	chr10:97030600-97036200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:97030600-97037800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:97030800-97036200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:97031000-97036000	Weak transcription	Gastric	stomach
17	chr10:97031000-97038200	Weak transcription	Fetal Stomach	stomach
18	chr10:97031600-97036200	Weak transcription	Primary B cells from cord blood	blood
19	chr10:97031600-97046600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr10:97032400-97040800	Enhancers	Stomach Mucosa	stomach
21	chr10:97032600-97036400	Enhancers	Liver	Liver
22	chr10:97032600-97041000	Enhancers	Fetal Intestine Large	intestine
23	chr10:97032600-97043600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr10:97032800-97035000	Genic enhancers	Fetal Intestine Small	intestine
25	chr10:97032800-97035200	Enhancers	Right Ventricle	heart
26	chr10:97032800-97035400	Enhancers	Lung	lung
27	chr10:97032800-97037600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:97032800-97039200	Enhancers	Duodenum Mucosa	Duodenum
29	chr10:97032800-97042800	Enhancers	Small Intestine	intestine
30	chr10:97033000-97034800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:97033000-97035400	Enhancers	Colonic Mucosa	Colon
32	chr10:97033000-97038600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr10:97033000-97039800	Enhancers	K562	blood
34	chr10:97033400-97037000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr10:97033400-97037800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr10:97033400-97039000	Enhancers	Left Ventricle	heart
37	chr10:97033400-97039400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr10:97033600-97035400	Enhancers	Psoas Muscle	Psoas
39	chr10:97033600-97037800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:97033600-97037800	Weak transcription	Colon Smooth Muscle	Colon
41	chr10:97033600-97040000	Enhancers	Adipose Nuclei	Adipose
42	chr10:97033800-97035000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr10:97033800-97035200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:97033800-97036000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr10:97033800-97037600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr10:97033800-97038000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:97033800-97039800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:97033800-97041600	Enhancers	NHLF	lung
49	chr10:97033800-97042400	Enhancers	Osteobl	bone
50	chr10:97034000-97034800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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