Variant report

Variant	rs73710014
Chromosome Location	chr8:121752550-121752551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57322022	1.00[AMR][1000 genomes]
rs58113621	1.00[AMR][1000 genomes]
rs58458628	1.00[AMR][1000 genomes]
rs61396577	1.00[AMR][1000 genomes]
rs73706732	1.00[AMR][1000 genomes]
rs73706738	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706743	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73707103	1.00[AMR][1000 genomes]
rs73710003	1.00[AMR][1000 genomes]
rs73710006	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710059	1.00[AMR][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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121731000-121757400	Weak transcription	Lung	lung
2	chr8:121739600-121758000	Weak transcription	NHLF	lung
3	chr8:121742200-121753200	Weak transcription	Fetal Kidney	kidney
4	chr8:121742200-121754600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:121742200-121757200	Weak transcription	HSMM	muscle
6	chr8:121745200-121761200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:121745400-121761400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr8:121745400-121761600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:121745600-121761400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr8:121745800-121761400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:121745800-121774200	Weak transcription	Fetal Stomach	stomach
12	chr8:121747600-121755800	Weak transcription	Aorta	Aorta
13	chr8:121747800-121757400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:121747800-121759600	Weak transcription	Fetal Thymus	thymus
15	chr8:121748000-121752800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:121748000-121756200	Weak transcription	Pancreas	Pancrea
17	chr8:121748000-121757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:121748400-121755000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:121748800-121753200	Weak transcription	Thymus	Thymus
20	chr8:121749000-121752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:121749000-121757200	Weak transcription	Gastric	stomach
22	chr8:121749000-121757400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:121749200-121753200	Weak transcription	Psoas Muscle	Psoas
24	chr8:121749200-121755000	Weak transcription	Small Intestine	intestine
25	chr8:121749400-121754600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:121749600-121761400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:121750400-121757400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:121750800-121752600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:121750800-121757400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:121751000-121753200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:121751000-121761000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:121751000-121761000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:121751200-121752600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:121751200-121753400	Strong transcription	Primary hematopoietic stem cells	blood
35	chr8:121751200-121754000	Weak transcription	Primary B cells from cord blood	blood
36	chr8:121751200-121756600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr8:121751400-121752800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:121751400-121753400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:121751400-121754400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:121751400-121760800	Enhancers	Primary T cells from cord blood	blood
41	chr8:121751600-121752600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:121751600-121753000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:121751600-121753400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:121751600-121755800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:121751800-121755200	Weak transcription	HSMMtube	muscle
46	chr8:121752000-121752600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:121752000-121758200	Genic enhancers	HepG2	liver
48	chr8:121752200-121753000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:121752200-121753200	Weak transcription	Brain Anterior Caudate	brain
50	chr8:121752200-121753400	Enhancers	Fetal Muscle Leg	muscle

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