Variant report

Variant	rs4454320
Chromosome Location	chr15:57420820-57420821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57378350..57380545-chr15:57420183..57422118,2	K562	blood:
2	chr15:57419834..57422198-chr15:57425067..57428064,2	K562	blood:

Variant related genes	Relation type
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1020890	1.00[EUR][1000 genomes]
rs16977186	0.92[AMR][1000 genomes]
rs16977194	0.92[AMR][1000 genomes]
rs16977197	0.92[AMR][1000 genomes]
rs16977212	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16977230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16977237	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16977248	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774904	0.85[AMR][1000 genomes]
rs4774907	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7174202	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037361	0.92[AMR][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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57382600-57423800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr15:57386400-57426600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr15:57386600-57424600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:57387000-57430000	Weak transcription	Placenta	Placenta
5	chr15:57387200-57425400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr15:57387600-57442400	Weak transcription	Fetal Intestine Large	intestine
7	chr15:57399400-57424600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr15:57403000-57424600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:57403800-57425200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:57404600-57425000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:57406800-57425000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:57406800-57425400	Weak transcription	Pancreas	Pancrea
13	chr15:57406800-57425600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:57406800-57425600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:57406800-57426400	Weak transcription	Colonic Mucosa	Colon
16	chr15:57406800-57426600	Weak transcription	Psoas Muscle	Psoas
17	chr15:57407600-57425600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:57410400-57425400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:57410600-57421600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr15:57410600-57424800	Weak transcription	HSMMtube	muscle
21	chr15:57410600-57425000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:57410600-57425400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:57410600-57426600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:57410600-57440800	Weak transcription	Ovary	ovary
25	chr15:57410800-57425000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:57410800-57425000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:57410800-57425600	Weak transcription	HMEC	breast
28	chr15:57411000-57428200	Weak transcription	NHLF	lung
29	chr15:57411000-57430400	Weak transcription	NH-A	brain
30	chr15:57411200-57422000	Weak transcription	Hela-S3	cervix
31	chr15:57411400-57426200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:57411600-57424200	Weak transcription	Brain Germinal Matrix	brain
33	chr15:57411800-57424200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:57412400-57425000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:57412600-57424800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:57413600-57425400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr15:57413800-57421200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:57413800-57426600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:57413800-57428800	Weak transcription	Gastric	stomach
40	chr15:57414000-57424200	Strong transcription	Fetal Thymus	thymus
41	chr15:57414000-57425400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:57414000-57425400	Weak transcription	Left Ventricle	heart
43	chr15:57414000-57425400	Weak transcription	Small Intestine	intestine
44	chr15:57414600-57423800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:57414800-57421600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:57414800-57421800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:57414800-57422000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:57415000-57425000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:57415000-57427800	Weak transcription	Colon Smooth Muscle	Colon
50	chr15:57415000-57428400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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