Variant report

Variant	rs60743501
Chromosome Location	chr15:40461921-40461922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40459484..40463009-chr15:40464134..40467795,7	K562	blood:
2	chr15:40460905..40463458-chr15:40465734..40469954,4	K562	blood:
3	chr15:40329240..40331760-chr15:40461133..40463251,2	K562	blood:
4	chr15:40452118..40453719-chr15:40461348..40463623,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156970	Chromatin interaction
ENSG00000140319	Chromatin interaction
ENSG00000248508	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11070254	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070255	1.00[EUR][1000 genomes]
rs12102172	1.00[EUR][1000 genomes]
rs12385956	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380113	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380241	1.00[EUR][1000 genomes]
rs1494534	1.00[EUR][1000 genomes]
rs1801528	1.00[EUR][1000 genomes]
rs1869906	1.00[EUR][1000 genomes]
rs28390245	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28417868	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28418337	1.00[AMR][1000 genomes]
rs28485685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28501335	1.00[EUR][1000 genomes]
rs28526743	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28561898	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28565228	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28606396	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637697	1.00[EUR][1000 genomes]
rs28657938	1.00[EUR][1000 genomes]
rs28668026	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28673302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28744626	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28750294	1.00[EUR][1000 genomes]
rs28792493	1.00[EUR][1000 genomes]
rs28844897	1.00[EUR][1000 genomes]
rs28869227	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35611758	1.00[EUR][1000 genomes]
rs56888636	1.00[EUR][1000 genomes]
rs57029027	1.00[EUR][1000 genomes]
rs58216655	1.00[EUR][1000 genomes]
rs58355728	1.00[AMR][1000 genomes]
rs58584688	1.00[EUR][1000 genomes]
rs60889301	1.00[EUR][1000 genomes]
rs6492943	1.00[EUR][1000 genomes]
rs7164281	1.00[EUR][1000 genomes]
rs7168394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168416	1.00[EUR][1000 genomes]
rs7173239	1.00[EUR][1000 genomes]
rs7178873	1.00[EUR][1000 genomes]
rs73377835	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389487	1.00[EUR][1000 genomes]
rs73389489	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389492	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389507	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389520	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389531	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389536	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389540	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390146	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390155	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390162	1.00[EUR][1000 genomes]
rs73390167	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390168	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390187	1.00[EUR][1000 genomes]
rs73391309	1.00[AMR][1000 genomes]
rs73391316	1.00[AMR][1000 genomes]
rs73392641	1.00[EUR][1000 genomes]
rs8023956	1.00[EUR][1000 genomes]
rs8026988	1.00[EUR][1000 genomes]
rs8364	1.00[EUR][1000 genomes]
rs9672591	1.00[EUR][1000 genomes]
rs967945	1.00[AMR][1000 genomes]
rs9806126	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9806144	0.93[AFR][1000 genomes];0.87[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40453800-40474600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:40453800-40525000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:40454000-40471000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:40454000-40474600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:40454000-40515200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:40454200-40471400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:40454600-40462400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:40454600-40463200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:40454600-40502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:40454800-40463200	Weak transcription	Fetal Intestine Large	intestine
11	chr15:40454800-40465600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:40454800-40474400	Weak transcription	Primary B cells from cord blood	blood
13	chr15:40454800-40524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:40455000-40474600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:40455000-40474600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:40455200-40465800	Weak transcription	Fetal Kidney	kidney
17	chr15:40455400-40462000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:40455400-40462200	Weak transcription	HSMM	muscle
19	chr15:40455400-40462200	Weak transcription	Osteobl	bone
20	chr15:40455400-40462400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:40455400-40462600	Weak transcription	Fetal Lung	lung
22	chr15:40455400-40463200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:40455400-40468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:40455400-40530400	Weak transcription	Fetal Brain Female	brain
25	chr15:40455600-40462400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:40455600-40462400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:40455600-40462600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:40455600-40462800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:40455600-40470800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:40455600-40477600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:40455600-40518200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:40455600-40522200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:40455600-40530400	Weak transcription	Brain Germinal Matrix	brain
34	chr15:40455800-40462000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:40455800-40462200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:40456000-40470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:40456200-40462000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr15:40456200-40466400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:40456200-40467000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:40456200-40469000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:40456200-40471600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr15:40456200-40471600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:40456200-40524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:40456200-40524000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:40456400-40466000	Strong transcription	K562	blood
46	chr15:40456600-40471400	Strong transcription	Fetal Thymus	thymus
47	chr15:40457000-40471600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr15:40457400-40462000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr15:40457400-40473200	Strong transcription	Dnd41	blood
50	chr15:40457400-40476000	Weak transcription	Duodenum Mucosa	Duodenum

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