Variant report

Variant	rs10068511
Chromosome Location	chr5:79509295-79509296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79508706..79511076-chr5:79549297..79550935,2	K562	blood:
2	chr5:79508737..79511174-chr5:79518884..79521695,2	K562	blood:
3	chr5:79508171..79510713-chr5:79510900..79513026,2	MCF-7	breast:
4	chr5:79507637..79510156-chr5:79513489..79515447,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10036141	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10036779	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041410	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058560	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12697906	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155466	1.00[CHD][hapmap]
rs13170471	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs13178966	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180605	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs13186313	1.00[CHD][hapmap]
rs13186656	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs13187742	1.00[ASN][1000 genomes]
rs13354808	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13355153	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200856	0.88[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs17201124	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs2405138	1.00[ASN][1000 genomes]
rs2405141	1.00[CHD][hapmap]
rs28637244	1.00[ASN][1000 genomes]
rs35696683	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521455	1.00[ASN][1000 genomes]
rs56040222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867389	1.00[ASN][1000 genomes]
rs6867803	1.00[ASN][1000 genomes]
rs6876065	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs6888220	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs71636208	1.00[ASN][1000 genomes]
rs72778006	1.00[ASN][1000 genomes]
rs72778028	1.00[ASN][1000 genomes]
rs7715187	1.00[CHD][hapmap]
rs9293805	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79490800-79513800	Weak transcription	Fetal Kidney	kidney
2	chr5:79497400-79515000	Weak transcription	Esophagus	oesophagus
3	chr5:79498600-79520800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:79498600-79521200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:79498800-79509800	Enhancers	Brain Hippocampus Middle	brain
6	chr5:79498800-79514000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:79499000-79513200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:79499000-79517800	Weak transcription	Aorta	Aorta
9	chr5:79500000-79509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:79500000-79537600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:79500200-79512000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:79500400-79510400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:79501000-79510600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr5:79501000-79512000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:79501000-79513200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:79501400-79509400	Weak transcription	NHEK	skin
17	chr5:79501400-79515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:79501600-79513200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:79501600-79516800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:79502000-79516200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:79502400-79513200	Weak transcription	Fetal Lung	lung
22	chr5:79502600-79515200	Weak transcription	HSMMtube	muscle
23	chr5:79502800-79511400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:79502800-79513200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:79503200-79510800	Weak transcription	Placenta	Placenta
26	chr5:79503600-79513000	Weak transcription	Osteobl	bone
27	chr5:79504000-79513000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:79504200-79509400	Enhancers	Fetal Heart	heart
29	chr5:79504600-79512000	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:79505200-79509600	Enhancers	Thymus	Thymus
31	chr5:79505200-79513000	Weak transcription	Fetal Brain Male	brain
32	chr5:79505800-79512200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:79505800-79513200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:79506400-79509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:79506400-79513200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr5:79506400-79516400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:79506600-79509600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr5:79506600-79509800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:79506600-79513200	Weak transcription	Stomach Mucosa	stomach
40	chr5:79506600-79513400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:79507000-79509800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:79507000-79511600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:79507000-79511600	Enhancers	HepG2	liver
44	chr5:79507000-79512600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr5:79507000-79513200	Weak transcription	Dnd41	blood
46	chr5:79507000-79516400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:79507200-79509400	Enhancers	Fetal Intestine Large	intestine
48	chr5:79507200-79509800	Enhancers	Primary hematopoietic stem cells	blood
49	chr5:79507200-79509800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr5:79507200-79511600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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