Variant report

Variant	rs8030618
Chromosome Location	chr15:57356428-57356429
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57352117..57354569-chr15:57356374..57360031,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12101705	1.00[AMR][1000 genomes]
rs12903733	1.00[AMR][1000 genomes]
rs16977150	1.00[AMR][1000 genomes]
rs16977156	1.00[AMR][1000 genomes]
rs16977168	1.00[AMR][1000 genomes]
rs16977178	1.00[AMR][1000 genomes]
rs16977180	1.00[AMR][1000 genomes]
rs16977183	1.00[AMR][1000 genomes]
rs16977196	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16977206	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16977215	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16977236	1.00[AMR][1000 genomes]
rs2733189	1.00[AMR][1000 genomes]
rs28637784	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28648947	1.00[AMR][1000 genomes]
rs28669321	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682280	1.00[AMR][1000 genomes]
rs28710916	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28760390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28790102	1.00[AMR][1000 genomes]
rs28807215	1.00[AMR][1000 genomes]
rs3111100	1.00[AMR][1000 genomes]
rs57637767	1.00[AMR][1000 genomes]
rs59225036	1.00[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:82 , 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	chr15:57336600-57371800	Weak transcription	K562	blood
3	chr15:57339800-57361600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:57340200-57372600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr15:57343800-57363400	Weak transcription	Aorta	Aorta
6	chr15:57344600-57363600	Weak transcription	Right Atrium	heart
7	chr15:57346000-57374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:57347000-57373400	Weak transcription	Fetal Intestine Small	intestine
9	chr15:57347600-57373000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr15:57347600-57373200	Weak transcription	Fetal Intestine Large	intestine
11	chr15:57348200-57361800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:57348600-57356800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:57349200-57356600	Enhancers	Brain Substantia Nigra	brain
14	chr15:57349600-57359800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:57349800-57357800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:57349800-57363800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:57349800-57366600	Weak transcription	Psoas Muscle	Psoas
18	chr15:57350200-57360800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:57350200-57363800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:57350400-57362400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr15:57350400-57372400	Weak transcription	Fetal Lung	lung
22	chr15:57350400-57373400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:57350400-57374000	Weak transcription	Ovary	ovary
24	chr15:57351200-57356800	Enhancers	Brain Cingulate Gyrus	brain
25	chr15:57351600-57361600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:57351800-57359000	Weak transcription	GM12878-XiMat	blood
27	chr15:57351800-57360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:57351800-57361600	Weak transcription	Primary T cells from cord blood	blood
29	chr15:57351800-57371000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:57353000-57361600	Strong transcription	Fetal Thymus	thymus
31	chr15:57353200-57359800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr15:57353200-57362800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:57353400-57356600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr15:57353400-57357200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:57353400-57357600	Weak transcription	Hela-S3	cervix
36	chr15:57353400-57362600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:57353400-57371000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:57353600-57362400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:57353600-57364200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:57353800-57356600	Enhancers	Brain Hippocampus Middle	brain
41	chr15:57353800-57362000	Weak transcription	HepG2	liver
42	chr15:57353800-57363800	Weak transcription	Colon Smooth Muscle	Colon
43	chr15:57353800-57364800	Weak transcription	HSMM	muscle
44	chr15:57353800-57373800	Weak transcription	Left Ventricle	heart
45	chr15:57353800-57406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:57354200-57361800	Weak transcription	NHDF-Ad	bronchial
47	chr15:57354200-57384600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:57354600-57357800	Enhancers	Brain Anterior Caudate	brain
49	chr15:57354600-57359200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr15:57354600-57371600	Weak transcription	NH-A	brain

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