Variant report

Variant	rs10040393
Chromosome Location	chr5:147823205-147823206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:147816876..147819657-chr5:147820613..147823403,2	K562	blood:
2	chr5:147823147..147824594-chr5:148109834..148111327,18	K562	blood:
3	chr5:147822834..147824246-chr5:148066635..148067622,10	MCF-7	breast:
4	chr5:147822042..147823728-chr5:148108945..148110549,2	K562	blood:
5	chr5:147823158..147824357-chr5:148110153..148111215,14	MCF-7	breast:
6	chr5:147823187..147824106-chr5:148108436..148109159,2	MCF-7	breast:
7	chr5:147822228..147824516-chr5:148108919..148110549,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10037368	1.00[AMR][1000 genomes]
rs10040505	1.00[AMR][1000 genomes]
rs10042851	1.00[AMR][1000 genomes]
rs10044087	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10045091	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10045756	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10052377	1.00[AMR][1000 genomes]
rs10056478	1.00[AMR][1000 genomes]
rs10057961	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10065391	1.00[AMR][1000 genomes]
rs10066963	1.00[AMR][1000 genomes]
rs10068025	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10068442	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10069937	1.00[AMR][1000 genomes]
rs10070008	1.00[AMR][1000 genomes]
rs10070268	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10071193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10072138	1.00[AMR][1000 genomes]
rs10076153	1.00[AMR][1000 genomes]
rs10077891	1.00[AMR][1000 genomes]
rs10079807	1.00[AMR][1000 genomes]
rs10447230	1.00[AMR][1000 genomes]
rs10476893	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477375	1.00[AMR][1000 genomes]
rs10477377	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11953609	1.00[AMR][1000 genomes]
rs12332247	1.00[AMR][1000 genomes]
rs13328218	1.00[AMR][1000 genomes]
rs13356990	1.00[AMR][1000 genomes]
rs28477447	1.00[AMR][1000 genomes]
rs28488637	1.00[AMR][1000 genomes]
rs28503435	1.00[AMR][1000 genomes]
rs57679720	1.00[AMR][1000 genomes]

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	nsv830516	chr5:147801104-147966093	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147778400-147823400	Strong transcription	Placenta	Placenta
2	chr5:147781800-147823600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:147784200-147823600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr5:147784400-147824600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:147797000-147832400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:147797600-147826400	Weak transcription	Stomach Mucosa	stomach
7	chr5:147801200-147823600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:147807400-147826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:147807600-147823800	Weak transcription	Brain Angular Gyrus	brain
10	chr5:147807600-147824400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:147807600-147833600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:147807600-147833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:147807600-147834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:147808000-147832000	Weak transcription	Right Ventricle	heart
15	chr5:147808000-147835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:147810200-147823600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:147810200-147824400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr5:147810400-147823400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:147810400-147823600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:147810600-147825600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:147811200-147823400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr5:147811400-147823400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:147811800-147823400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr5:147811800-147824600	Strong transcription	Fetal Thymus	thymus
25	chr5:147812000-147823400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:147812000-147823400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr5:147812200-147823600	Strong transcription	Liver	Liver
28	chr5:147812400-147823600	Strong transcription	Osteobl	bone
29	chr5:147812600-147823400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr5:147812800-147823400	Strong transcription	Fetal Muscle Leg	muscle
31	chr5:147812800-147823600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:147812800-147823600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:147813000-147824600	Strong transcription	Left Ventricle	heart
34	chr5:147813400-147823600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr5:147815600-147832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:147815800-147825600	Weak transcription	K562	blood
37	chr5:147816000-147823800	Weak transcription	Fetal Kidney	kidney
38	chr5:147816800-147823400	Strong transcription	Primary T cells from cord blood	blood
39	chr5:147817000-147829600	Weak transcription	Pancreas	Pancrea
40	chr5:147817000-147834200	Weak transcription	Gastric	stomach
41	chr5:147817200-147824200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:147817800-147824000	Strong transcription	NH-A	brain
43	chr5:147818200-147830600	Weak transcription	Aorta	Aorta
44	chr5:147819000-147823400	Strong transcription	Adipose Nuclei	Adipose
45	chr5:147819000-147825800	Weak transcription	HSMMtube	muscle
46	chr5:147819400-147824400	Weak transcription	Spleen	Spleen
47	chr5:147819400-147825200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:147819400-147831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:147819600-147824200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:147819800-147823400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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