Variant report

Variant	rs10041138
Chromosome Location	chr5:80605800-80605801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80598755..80600911-chr5:80604785..80606382,2	K562	blood:
2	chr5:80602575..80605016-chr5:80605616..80608114,3	K562	blood:
3	chr5:80605059..80607485-chr5:80614379..80616095,2	MCF-7	breast:
4	chr5:80595989..80598646-chr5:80605465..80607779,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131732	Chromatin interaction
ENSG00000247572	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10052929	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10061143	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10062967	0.82[EUR][1000 genomes]
rs10072332	0.84[ASN][1000 genomes]
rs1039326	1.00[JPT][hapmap]
rs12514420	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12516414	0.84[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs12519433	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs12659947	0.81[JPT][hapmap]
rs1566433	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16876403	0.83[CHB][hapmap]
rs17228569	0.81[CEU][hapmap]
rs2124888	0.84[CEU][hapmap]
rs2270824	0.84[CHB][hapmap]
rs2277037	0.83[CHB][hapmap]
rs2291942	0.81[JPT][hapmap]
rs2406557	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3756636	0.80[CEU][hapmap]
rs4502795	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4703828	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs4703832	0.80[ASN][1000 genomes]
rs4704711	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs4704713	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4704714	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4704716	0.81[JPT][hapmap]
rs4704717	0.83[CHB][hapmap]
rs56938600	0.85[ASN][1000 genomes]
rs57040652	0.84[ASN][1000 genomes]
rs57266451	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6863732	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6868743	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6868762	0.84[CEU][hapmap]
rs6871676	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6877340	0.80[ASN][1000 genomes]
rs6889795	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6896441	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6896890	0.85[ASN][1000 genomes]
rs7718501	0.81[EUR][1000 genomes]
rs7731117	0.85[ASN][1000 genomes]
rs7734902	0.81[CEU][hapmap]
rs871701	0.90[JPT][hapmap]
rs955948	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80598200-80612400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:80598400-80606800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:80598400-80606800	Weak transcription	Right Ventricle	heart
4	chr5:80598400-80611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:80598600-80606400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:80598600-80606400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:80598600-80606400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:80598600-80606400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:80598600-80606600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:80598600-80606600	Weak transcription	Aorta	Aorta
11	chr5:80598600-80606600	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:80598600-80606600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:80598600-80606600	Weak transcription	Lung	lung
14	chr5:80598600-80606600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:80598600-80606600	Weak transcription	HSMMtube	muscle
16	chr5:80598600-80606800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:80598600-80607000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:80598600-80607600	Weak transcription	Fetal Kidney	kidney
19	chr5:80598600-80608200	Weak transcription	Fetal Stomach	stomach
20	chr5:80598600-80608800	Weak transcription	Brain Germinal Matrix	brain
21	chr5:80598600-80609600	Weak transcription	Gastric	stomach
22	chr5:80598600-80610000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:80598600-80611200	Weak transcription	Brain Anterior Caudate	brain
24	chr5:80598600-80611200	Weak transcription	Fetal Brain Male	brain
25	chr5:80598600-80611200	Weak transcription	Small Intestine	intestine
26	chr5:80598600-80611200	Weak transcription	Stomach Mucosa	stomach
27	chr5:80598600-80611800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:80598800-80606600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:80598800-80606800	Weak transcription	Fetal Brain Female	brain
30	chr5:80598800-80611000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:80598800-80611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:80599200-80610000	Weak transcription	Pancreas	Pancrea
33	chr5:80599200-80612200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:80599400-80610400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:80599600-80606800	Weak transcription	A549	lung
36	chr5:80599600-80609200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:80599600-80610600	Weak transcription	Fetal Heart	heart
38	chr5:80599600-80611200	Weak transcription	Brain Substantia Nigra	brain
39	chr5:80599800-80605800	Weak transcription	HepG2	liver
40	chr5:80599800-80606600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:80599800-80607000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr5:80599800-80608400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:80599800-80611400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:80600200-80606600	Weak transcription	HMEC	breast
45	chr5:80601000-80607600	Weak transcription	GM12878-XiMat	blood
46	chr5:80601400-80606600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:80601400-80611000	Weak transcription	Hela-S3	cervix
48	chr5:80601400-80612400	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:80601400-80612400	Weak transcription	Thymus	Thymus
50	chr5:80601600-80606600	Weak transcription	NHLF	lung

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