Variant report

Variant	rs56683633
Chromosome Location	chr15:57371836-57371837
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	chr15:57370971..57373246-chr15:57380194..57383118,2	K562	blood:
2	chr15:57370291..57372471-chr15:57379533..57381694,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1020888	0.80[AFR][1000 genomes]
rs1430821	1.00[AMR][1000 genomes]
rs1542508	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1642932	1.00[AMR][1000 genomes]
rs1642938	1.00[AMR][1000 genomes]
rs1652735	1.00[AMR][1000 genomes]
rs1657925	1.00[AMR][1000 genomes]
rs16977246	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16977269	0.82[AFR][1000 genomes]
rs1841692	0.88[AFR][1000 genomes]
rs2011551	0.84[AFR][1000 genomes]
rs2116064	1.00[AMR][1000 genomes]
rs213145	1.00[AMR][1000 genomes]
rs213146	1.00[AMR][1000 genomes]
rs213157	1.00[AMR][1000 genomes]
rs213158	1.00[AMR][1000 genomes]
rs213159	1.00[AMR][1000 genomes]
rs213161	1.00[AMR][1000 genomes]
rs2576928	1.00[AMR][1000 genomes]
rs2585084	1.00[AMR][1000 genomes]
rs2585117	1.00[AMR][1000 genomes]
rs2593230	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2615233	1.00[ASN][1000 genomes]
rs2703587	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703589	0.94[ASN][1000 genomes]
rs2703620	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2703624	1.00[ASN][1000 genomes]
rs2733194	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2733195	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2733328	1.00[ASN][1000 genomes]
rs2733337	1.00[ASN][1000 genomes]
rs2733339	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4494480	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4774911	0.85[AFR][1000 genomes]
rs56032316	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235870	1.00[AMR][1000 genomes]
rs56804967	1.00[AMR][1000 genomes]
rs56821483	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56901700	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57344548	1.00[AMR][1000 genomes]
rs57849686	1.00[AMR][1000 genomes]
rs57968080	1.00[AMR][1000 genomes]
rs58050095	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs58388376	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59313491	1.00[AMR][1000 genomes]
rs604191	1.00[AMR][1000 genomes]
rs7161894	1.00[AMR][1000 genomes]
rs7162421	1.00[AMR][1000 genomes]
rs7170742	1.00[AMR][1000 genomes]
rs7175983	1.00[AMR][1000 genomes]
rs7178845	1.00[ASN][1000 genomes]
rs7180911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73411246	1.00[AMR][1000 genomes]
rs73413325	1.00[AMR][1000 genomes]
rs73413333	1.00[AMR][1000 genomes]
rs73413352	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73413365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73415456	0.85[AFR][1000 genomes]
rs74018446	1.00[AMR][1000 genomes]
rs74018485	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74018496	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025829	1.00[AMR][1000 genomes]
rs9672904	0.81[ASN][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57324600-57398600	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:57340200-57372600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr15:57346000-57374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:57347000-57373400	Weak transcription	Fetal Intestine Small	intestine
5	chr15:57347600-57373000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:57347600-57373200	Weak transcription	Fetal Intestine Large	intestine
7	chr15:57350400-57372400	Weak transcription	Fetal Lung	lung
8	chr15:57350400-57373400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr15:57350400-57374000	Weak transcription	Ovary	ovary
10	chr15:57353800-57373800	Weak transcription	Left Ventricle	heart
11	chr15:57353800-57406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:57354200-57384600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:57355000-57374000	Weak transcription	Osteobl	bone
14	chr15:57356000-57393400	Weak transcription	Thymus	Thymus
15	chr15:57356400-57373800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:57356600-57372000	Weak transcription	Primary B cells from cord blood	blood
17	chr15:57360400-57372400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:57362800-57384200	Weak transcription	HepG2	liver
19	chr15:57363000-57372600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:57363800-57378200	Weak transcription	Gastric	stomach
21	chr15:57363800-57382000	Weak transcription	Right Atrium	heart
22	chr15:57365200-57374200	Weak transcription	Fetal Kidney	kidney
23	chr15:57365200-57384000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:57365400-57372400	Weak transcription	Fetal Heart	heart
25	chr15:57365400-57372600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:57365400-57374000	Weak transcription	NHEK	skin
27	chr15:57365600-57385200	Weak transcription	HSMM	muscle
28	chr15:57365800-57374200	Weak transcription	A549	lung
29	chr15:57365800-57384000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:57367000-57374000	Weak transcription	Psoas Muscle	Psoas
31	chr15:57368000-57380400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:57370400-57372800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr15:57370600-57372800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr15:57370600-57373600	Enhancers	Primary T cells from cord blood	blood
35	chr15:57370800-57373200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr15:57371000-57372000	Enhancers	Dnd41	blood
37	chr15:57371000-57372200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:57371000-57372200	Enhancers	Brain Hippocampus Middle	brain
39	chr15:57371000-57372400	Enhancers	Brain Cingulate Gyrus	brain
40	chr15:57371000-57373400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:57371200-57372800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr15:57371400-57372000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr15:57371400-57372000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:57371400-57372000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:57371400-57372400	Active TSS	Brain Anterior Caudate	brain
46	chr15:57371400-57372800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr15:57371400-57372800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr15:57371400-57373000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr15:57371400-57373000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr15:57371400-57373200	Enhancers	Primary monocytes fromperipheralblood	blood

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