Variant report

Variant	rs28792671
Chromosome Location	chr5:118808763-118808764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118805949..118809401-chr5:118811224..118814012,4	K562	blood:

Variant related genes	Relation type
ENSG00000133835	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10040115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10041122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10041785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10045177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10054525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057263	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10057643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10061692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10062410	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10064454	1.00[EUR][1000 genomes]
rs10068320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10072256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10077255	1.00[EUR][1000 genomes]
rs10440770	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10477586	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10478423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13356711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13361084	1.00[EUR][1000 genomes]
rs28478666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504028	1.00[AFR][1000 genomes]
rs28558429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28588064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28590215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28673725	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28762138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55810648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303659	1.00[EUR][1000 genomes]
rs56372726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58184170	1.00[EUR][1000 genomes]
rs73790891	1.00[EUR][1000 genomes]
rs9885031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:118789400-118831200	Weak transcription	NH-A	brain
6	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
7	chr5:118789600-118810600	Weak transcription	Osteobl	bone
8	chr5:118789600-118812000	Weak transcription	A549	lung
9	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:118789800-118811000	Weak transcription	Brain Angular Gyrus	brain
12	chr5:118789800-118813800	Weak transcription	Fetal Kidney	kidney
13	chr5:118789800-118814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:118790000-118812600	Weak transcription	Fetal Brain Male	brain
15	chr5:118790200-118813400	Weak transcription	Aorta	Aorta
16	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:118792400-118815000	Weak transcription	K562	blood
18	chr5:118793400-118810000	Weak transcription	Placenta	Placenta
19	chr5:118793400-118812200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:118794800-118861200	Weak transcription	HSMM	muscle
21	chr5:118795200-118813400	Weak transcription	Small Intestine	intestine
22	chr5:118804200-118813600	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:118804400-118809400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:118804400-118813000	Weak transcription	Colonic Mucosa	Colon
26	chr5:118804400-118813200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:118804400-118820000	Weak transcription	NHDF-Ad	bronchial
28	chr5:118804600-118809400	Weak transcription	Liver	Liver
29	chr5:118804600-118809400	Weak transcription	HepG2	liver
30	chr5:118804600-118811800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:118804600-118811800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:118804600-118812000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:118804600-118813400	Weak transcription	Right Ventricle	heart
34	chr5:118804600-118818800	Weak transcription	Stomach Mucosa	stomach
35	chr5:118804600-118819400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:118804800-118811800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:118804800-118813400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:118804800-118821400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:118804800-118837000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:118805200-118813400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:118805200-118839400	Weak transcription	NHEK	skin
42	chr5:118805400-118810600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:118805400-118812000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:118805400-118812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:118805600-118813000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:118805600-118813400	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:118805600-118817200	Weak transcription	Fetal Brain Female	brain
48	chr5:118805800-118809400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:118805800-118809600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr5:118805800-118809600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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