Variant report

Variant	rs10078514
Chromosome Location	chr5:16529339-16529340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16527152..16530063-chr5:16533839..16538809,7	K562	blood:
2	chr5:16521375..16523909-chr5:16526389..16530359,4	K562	blood:
3	chr5:16529119..16532127-chr5:16532204..16536269,4	MCF-7	breast:
4	chr5:16502543..16505199-chr5:16528259..16530477,2	MCF-7	breast:
5	chr5:16527956..16530319-chr5:16542721..16545847,3	K562	blood:
6	chr5:16513910..16515735-chr5:16529020..16530796,2	K562	blood:
7	chr5:16527438..16530351-chr5:16530397..16531960,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16868712	0.81[AMR][1000 genomes]
rs16868714	0.81[AMR][1000 genomes]
rs16868716	0.81[AMR][1000 genomes]
rs16868721	0.81[AMR][1000 genomes]
rs17540822	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17613128	1.00[CEU][hapmap]
rs2248104	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2617432	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs59397845	0.98[EUR][1000 genomes]
rs62369678	0.86[AMR][1000 genomes]
rs62369681	0.86[AMR][1000 genomes]
rs62369682	0.81[AMR][1000 genomes]
rs62369683	0.81[AMR][1000 genomes]
rs62369684	0.81[AMR][1000 genomes]
rs62369685	0.81[AMR][1000 genomes]
rs62369686	0.81[AMR][1000 genomes]
rs62369709	0.81[AMR][1000 genomes]
rs62369710	0.81[AMR][1000 genomes]
rs62369711	0.81[AMR][1000 genomes]
rs62369713	0.81[AMR][1000 genomes]
rs62369714	0.86[AMR][1000 genomes]
rs62369715	0.81[AMR][1000 genomes]
rs62369719	0.98[EUR][1000 genomes]
rs62369721	0.81[AMR][1000 genomes];0.98[EUR][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	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16516000-16540800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:16519800-16531400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:16521600-16539600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:16522400-16567400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:16522600-16530000	Weak transcription	Right Atrium	heart
6	chr5:16523400-16540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:16523600-16533800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:16523600-16535400	Weak transcription	Pancreas	Pancrea
9	chr5:16523800-16539000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:16523800-16540800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:16524400-16529600	Weak transcription	Psoas Muscle	Psoas
12	chr5:16524400-16529800	Weak transcription	Brain Substantia Nigra	brain
13	chr5:16524600-16531800	Weak transcription	Small Intestine	intestine
14	chr5:16524600-16533800	Weak transcription	Right Ventricle	heart
15	chr5:16525000-16529800	Weak transcription	Brain Angular Gyrus	brain
16	chr5:16525000-16540800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:16525000-16542000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:16525200-16540400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:16525600-16539200	Weak transcription	Gastric	stomach
20	chr5:16526200-16529800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:16526400-16537400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:16527200-16533800	Weak transcription	Primary T cells from cord blood	blood
23	chr5:16527200-16534400	Weak transcription	Thymus	Thymus
24	chr5:16528400-16529600	Enhancers	Duodenum Mucosa	Duodenum
25	chr5:16528600-16529400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:16528600-16530400	Enhancers	Brain Cingulate Gyrus	brain
27	chr5:16528600-16532000	Enhancers	Fetal Intestine Large	intestine
28	chr5:16528600-16532000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr5:16528600-16532200	Enhancers	Fetal Intestine Small	intestine
30	chr5:16528600-16532800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:16528800-16529800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:16528800-16530400	Enhancers	Brain Hippocampus Middle	brain
33	chr5:16528800-16530600	Enhancers	Fetal Heart	heart
34	chr5:16529000-16529800	Weak transcription	Colonic Mucosa	Colon
35	chr5:16529000-16529800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:16529000-16529800	Weak transcription	Left Ventricle	heart
37	chr5:16529000-16530000	Enhancers	Stomach Mucosa	stomach
38	chr5:16529000-16537000	Weak transcription	Fetal Brain Male	brain
39	chr5:16529000-16538000	Weak transcription	Fetal Brain Female	brain
40	chr5:16529200-16529600	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:16529200-16529800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:16529200-16529800	Active TSS	Skeletal Muscle Female	skeletal muscle

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