Variant report

Variant	rs42425
Chromosome Location	chr5:36178293-36178294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36175359..36180718-chr5:36239202..36245572,9	K562	blood:
2	chr5:36178162..36178735-chr5:36305590..36306300,3	K562	blood:
3	chr5:36178277..36178799-chr5:36305949..36306456,2	MCF-7	breast:
4	chr5:36177839..36178745-chr5:36305538..36306436,7	MCF-7	breast:
5	chr5:36177858..36178561-chr5:36397826..36398821,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152620	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11738371	0.80[ASN][1000 genomes]
rs11738429	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12656216	0.81[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs13190112	0.90[JPT][hapmap]
rs166068	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2362973	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2362974	0.85[JPT][hapmap]
rs27128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27130	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs33678	0.85[JPT][hapmap]
rs37218	0.88[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3804446	0.85[JPT][hapmap]
rs3815779	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40030	0.93[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4434406	0.85[JPT][hapmap]
rs4440390	0.85[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36153800-36184400	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:36154000-36184200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:36154200-36179000	Strong transcription	A549	lung
4	chr5:36154200-36184400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:36154200-36184400	Strong transcription	Fetal Thymus	thymus
6	chr5:36154400-36184400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:36154400-36210800	Weak transcription	Small Intestine	intestine
8	chr5:36158200-36183200	Strong transcription	Hela-S3	cervix
9	chr5:36158400-36182000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:36158400-36184400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:36158600-36184600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr5:36158600-36185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:36161800-36184400	Strong transcription	Dnd41	blood
14	chr5:36162200-36180600	Weak transcription	Stomach Mucosa	stomach
15	chr5:36162400-36183000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:36162400-36184400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:36163800-36200600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:36164800-36220800	Weak transcription	Gastric	stomach
19	chr5:36166800-36181400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:36167200-36182800	Strong transcription	NH-A	brain
21	chr5:36169000-36182600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:36169200-36181800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr5:36169200-36193200	Weak transcription	Pancreas	Pancrea
24	chr5:36169400-36181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:36169600-36182400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:36169600-36202400	Weak transcription	Fetal Heart	heart
27	chr5:36170200-36182400	Strong transcription	HUVEC	blood vessel
28	chr5:36171200-36181200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:36171800-36220600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:36172000-36185200	Weak transcription	Esophagus	oesophagus
31	chr5:36172000-36229200	Weak transcription	Colonic Mucosa	Colon
32	chr5:36172400-36189400	Weak transcription	Fetal Intestine Small	intestine
33	chr5:36172400-36189600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:36174200-36181400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr5:36174200-36195200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:36174400-36190800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:36175000-36178600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:36175000-36180200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:36175000-36181400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:36175000-36189600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:36175000-36191200	Weak transcription	Aorta	Aorta
42	chr5:36175000-36191600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:36175200-36178600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:36175200-36178600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:36175200-36180200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:36175200-36180600	Enhancers	Liver	Liver
47	chr5:36175200-36181400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr5:36175200-36184400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:36175200-36189600	Weak transcription	Spleen	Spleen
50	chr5:36175200-36202400	Weak transcription	Right Ventricle	heart

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