Variant report

Variant	rs28744626
Chromosome Location	chr15:40456573-40456574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40455615..40458970-chr15:40466942..40470330,4	K562	blood:
2	chr15:40456244..40459045-chr15:40490798..40492808,2	K562	blood:
3	chr15:40395137..40397237-chr15:40456006..40457830,2	K562	blood:
4	chr15:40446320..40448068-chr15:40456241..40458639,2	K562	blood:
5	chr15:40398448..40401126-chr15:40456475..40458937,2	K562	blood:

Variant related genes	Relation type
ENSG00000156970	Chromatin interaction
ENSG00000104081	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11070254	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070255	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12102172	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12385956	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380113	1.00[EUR][1000 genomes]
rs13380241	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1494534	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801528	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1869906	1.00[EUR][1000 genomes]
rs28390245	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28417868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28418337	0.87[AMR][1000 genomes]
rs28485685	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28501335	1.00[EUR][1000 genomes]
rs28526743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28561898	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28565228	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28606396	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637656	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637697	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28657938	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28668026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28673302	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28750294	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28792493	1.00[EUR][1000 genomes]
rs28844897	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28869227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35611758	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56888636	1.00[EUR][1000 genomes]
rs57029027	1.00[EUR][1000 genomes]
rs58216655	1.00[EUR][1000 genomes]
rs58355728	0.87[AMR][1000 genomes]
rs58584688	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60743501	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60889301	1.00[EUR][1000 genomes]
rs7164281	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168394	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168416	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173239	1.00[EUR][1000 genomes]
rs7178873	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73377835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389487	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389489	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389492	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389507	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389531	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389536	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389540	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390146	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390155	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390162	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390167	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390187	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391309	0.87[AMR][1000 genomes]
rs73391316	0.87[AMR][1000 genomes]
rs73392641	1.00[EUR][1000 genomes]
rs8023956	1.00[EUR][1000 genomes]
rs8026988	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8364	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9672591	1.00[EUR][1000 genomes]
rs967945	0.87[AMR][1000 genomes]
rs9806126	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9806144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 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	chr15:40453400-40456600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr15:40453800-40460200	Weak transcription	Right Atrium	heart
3	chr15:40453800-40474600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:40453800-40525000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:40454000-40459600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr15:40454000-40460600	Weak transcription	Placenta	Placenta
7	chr15:40454000-40471000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:40454000-40474600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:40454000-40515200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:40454200-40471400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr15:40454600-40462400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:40454600-40463200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:40454600-40502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:40454800-40456600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:40454800-40463200	Weak transcription	Fetal Intestine Large	intestine
16	chr15:40454800-40465600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:40454800-40474400	Weak transcription	Primary B cells from cord blood	blood
18	chr15:40454800-40524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:40455000-40457800	Weak transcription	Fetal Intestine Small	intestine
20	chr15:40455000-40474600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:40455000-40474600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:40455200-40457000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr15:40455200-40461000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:40455200-40465800	Weak transcription	Fetal Kidney	kidney
25	chr15:40455400-40456600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:40455400-40456800	Weak transcription	Fetal Stomach	stomach
27	chr15:40455400-40457000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr15:40455400-40457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:40455400-40457200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:40455400-40457200	Weak transcription	Fetal Heart	heart
31	chr15:40455400-40457200	Weak transcription	NHDF-Ad	bronchial
32	chr15:40455400-40457200	Weak transcription	NHLF	lung
33	chr15:40455400-40460800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr15:40455400-40462000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:40455400-40462200	Weak transcription	HSMM	muscle
36	chr15:40455400-40462200	Weak transcription	Osteobl	bone
37	chr15:40455400-40462400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:40455400-40462600	Weak transcription	Fetal Lung	lung
39	chr15:40455400-40463200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:40455400-40468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:40455400-40530400	Weak transcription	Fetal Brain Female	brain
42	chr15:40455600-40456600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:40455600-40456600	Genic enhancers	Fetal Thymus	thymus
44	chr15:40455600-40456800	Weak transcription	NHEK	skin
45	chr15:40455600-40457200	Weak transcription	Fetal Muscle Leg	muscle
46	chr15:40455600-40460800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:40455600-40462400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:40455600-40462400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:40455600-40462600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:40455600-40462800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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