Variant report

Variant	rs621932
Chromosome Location	chr5:16528658-16528659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:16465063..16466907-chr5:16527277..16528831,2	K562	blood:
2	chr5:16527152..16530063-chr5:16533839..16538809,7	K562	blood:
3	chr5:16521375..16523909-chr5:16526389..16530359,4	K562	blood:
4	chr5:16522409..16525329-chr5:16526389..16528895,4	K562	blood:
5	chr5:16502543..16505199-chr5:16528259..16530477,2	MCF-7	breast:
6	chr5:16527956..16530319-chr5:16542721..16545847,3	K562	blood:
7	chr5:16527438..16530351-chr5:16530397..16531960,2	K562	blood:
8	chr5:16417923..16420482-chr5:16527282..16529023,2	K562	blood:
9	chr5:16471300..16474284-chr5:16525885..16528906,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173545	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10053236	0.92[JPT][hapmap]
rs1020952	0.93[JPT][hapmap]
rs12109050	0.93[JPT][hapmap]
rs162758	0.93[JPT][hapmap]
rs2560830	0.83[JPT][hapmap]
rs334485	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs334486	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs334487	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs334490	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs334491	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs334492	0.93[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs425779	0.88[ASN][1000 genomes]
rs595358	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	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	chr5:16509600-16528800	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:16516000-16540800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:16519800-16531400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:16521600-16539600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:16522200-16528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:16522400-16529000	Weak transcription	Stomach Mucosa	stomach
7	chr5:16522400-16567400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:16522600-16530000	Weak transcription	Right Atrium	heart
9	chr5:16523400-16540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:16523600-16533800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:16523600-16535400	Weak transcription	Pancreas	Pancrea
12	chr5:16523800-16539000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:16523800-16540800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:16524400-16529600	Weak transcription	Psoas Muscle	Psoas
15	chr5:16524400-16529800	Weak transcription	Brain Substantia Nigra	brain
16	chr5:16524600-16531800	Weak transcription	Small Intestine	intestine
17	chr5:16524600-16533800	Weak transcription	Right Ventricle	heart
18	chr5:16525000-16529800	Weak transcription	Brain Angular Gyrus	brain
19	chr5:16525000-16540800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:16525000-16542000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:16525200-16540400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:16525600-16539200	Weak transcription	Gastric	stomach
23	chr5:16526200-16529800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:16526400-16537400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr5:16526600-16528800	Weak transcription	Fetal Heart	heart
26	chr5:16527200-16533800	Weak transcription	Primary T cells from cord blood	blood
27	chr5:16527200-16534400	Weak transcription	Thymus	Thymus
28	chr5:16528200-16528800	Weak transcription	Colonic Mucosa	Colon
29	chr5:16528200-16529000	Enhancers	Fetal Brain Male	brain
30	chr5:16528400-16528800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr5:16528400-16529600	Enhancers	Duodenum Mucosa	Duodenum
32	chr5:16528600-16528800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr5:16528600-16529000	Enhancers	Fetal Brain Female	brain
34	chr5:16528600-16529000	Enhancers	Left Ventricle	heart
35	chr5:16528600-16529200	Enhancers	Fetal Muscle Leg	muscle
36	chr5:16528600-16529200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr5:16528600-16529400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr5:16528600-16530400	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:16528600-16532000	Enhancers	Fetal Intestine Large	intestine
40	chr5:16528600-16532000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr5:16528600-16532200	Enhancers	Fetal Intestine Small	intestine
42	chr5:16528600-16532800	Enhancers	Rectal Mucosa Donor 31	rectum

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