Variant report

Variant	rs4658231
Chromosome Location	chr1:92041502-92041503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92040278..92042604-chr1:92043296..92045130,2	K562	blood:
2	chr1:92040658..92042372-chr1:92120561..92123139,2	K562	blood:
3	chr1:92038932..92042320-chr1:92059008..92062228,3	K562	blood:
4	chr1:92041439..92043572-chr1:92053953..92055519,2	K562	blood:
5	chr1:92040469..92042505-chr1:92051071..92052577,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10493852	0.87[ASN][1000 genomes]
rs4658232	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4658231	TMED5	cis	cerebellum	SCAN
rs4658231	PKN2	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92035800-92041600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:92035800-92047600	Weak transcription	Ovary	ovary
3	chr1:92035800-92048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:92036000-92043800	Weak transcription	A549	lung
5	chr1:92036000-92043800	Weak transcription	K562	blood
6	chr1:92036000-92044600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:92036200-92044400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:92036400-92051000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:92036600-92041600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:92037200-92045600	Enhancers	Fetal Stomach	stomach
11	chr1:92037800-92041600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:92038000-92041600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:92038000-92041600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:92038000-92041600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:92038000-92041600	Weak transcription	Fetal Thymus	thymus
16	chr1:92038000-92042000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:92038000-92042400	Weak transcription	Left Ventricle	heart
18	chr1:92038000-92042400	Weak transcription	Right Ventricle	heart
19	chr1:92038000-92044400	Weak transcription	Lung	lung
20	chr1:92038000-92045200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:92038200-92041600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:92038200-92041600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:92038200-92041600	Weak transcription	Placenta	Placenta
24	chr1:92038200-92049000	Weak transcription	Right Atrium	heart
25	chr1:92038400-92041600	Weak transcription	Primary B cells from cord blood	blood
26	chr1:92038400-92041800	Weak transcription	GM12878-XiMat	blood
27	chr1:92039600-92042200	Enhancers	Fetal Lung	lung
28	chr1:92039800-92042200	Enhancers	Colon Smooth Muscle	Colon
29	chr1:92039800-92047200	Enhancers	Fetal Heart	heart
30	chr1:92040000-92042000	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:92040000-92042800	Enhancers	NHLF	lung
32	chr1:92040200-92042000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:92040200-92042000	Enhancers	NHDF-Ad	bronchial
34	chr1:92040400-92041800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:92040400-92042200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:92040400-92042200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:92040600-92042000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:92040600-92042800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:92040800-92041600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:92040800-92042200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:92041000-92041800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:92041200-92043000	Enhancers	Primary B cells from peripheral blood	blood
43	chr1:92041200-92043200	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:92041400-92041800	Active TSS	Fetal Brain Male	brain
45	chr1:92041400-92042000	Enhancers	Fetal Kidney	kidney
46	chr1:92041400-92042200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:92041400-92042400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:92041400-92042400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:92041400-92042400	Flanking Active TSS	Dnd41	blood
50	chr1:92041400-92042600	Enhancers	Primary T cells from cord blood	blood

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