Variant report

Variant	rs73377835
Chromosome Location	chr15:40452528-40452529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:40452455-40454040	IMR90	lung:	n/a	n/a
2	HCFC1	chr15:40452173-40454373	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:40452511-40452690	MCF10A-Er-Src	breast:	n/a	n/a
4	JUN	chr15:40452425-40454067	K562	blood:	n/a	n/a
5	SREBP1	chr15:40452377-40454533	GM12878	blood:	n/a	n/a
6	MXI1	chr15:40452407-40454949	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40401050..40404743-chr15:40451589..40454397,3	K562	blood:
2	chr15:40447852..40449370-chr15:40450050..40452943,2	K562	blood:
3	chr15:40355705..40358626-chr15:40451633..40453971,2	K562	blood:
4	chr15:40068522..40070743-chr15:40450771..40453010,2	K562	blood:
5	chr15:40399053..40404293-chr15:40451574..40455090,8	MCF-7	breast:
6	chr15:40452220..40455176-chr15:40475826..40477725,2	K562	blood:
7	chr15:40447852..40449701-chr15:40449877..40452943,3	K562	blood:

No data

Variant related genes	Relation type
BUB1B	TF binding region
ENSG00000156970	Chromatin interaction
ENSG00000248508	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	0.91[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	0.90[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28417868	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28418337	0.87[AMR][1000 genomes]
rs28485685	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28501335	1.00[EUR][1000 genomes]
rs28526743	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28561898	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28565228	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28606396	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637656	0.95[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28673302	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28744626	0.97[AFR][1000 genomes];1.00[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	0.95[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	0.94[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	0.95[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]
rs73389487	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389489	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389492	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389507	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389520	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389531	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389536	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389540	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390146	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390155	0.92[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	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390168	0.92[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9806144	0.97[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40443200-40452800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:40447800-40452800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40447800-40452800	Weak transcription	Right Atrium	heart
4	chr15:40448000-40452800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:40448000-40452800	Weak transcription	Fetal Intestine Large	intestine
6	chr15:40448200-40452600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:40448200-40452800	Weak transcription	Colonic Mucosa	Colon
8	chr15:40448200-40452800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:40448200-40452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:40448400-40452600	Weak transcription	HMEC	breast
11	chr15:40448400-40452800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:40448400-40452800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:40448600-40452600	Weak transcription	Fetal Kidney	kidney
14	chr15:40448600-40452800	Weak transcription	Esophagus	oesophagus
15	chr15:40448600-40452800	Weak transcription	Fetal Lung	lung
16	chr15:40448600-40452800	Weak transcription	Gastric	stomach
17	chr15:40448600-40452800	Weak transcription	Lung	lung
18	chr15:40448600-40452800	Weak transcription	NHEK	skin
19	chr15:40448800-40452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:40448800-40452600	Weak transcription	GM12878-XiMat	blood
21	chr15:40448800-40452800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:40448800-40452800	Weak transcription	Pancreas	Pancrea
23	chr15:40449200-40452600	Weak transcription	Stomach Mucosa	stomach
24	chr15:40449400-40452800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr15:40449400-40452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:40449600-40452600	Enhancers	K562	blood
27	chr15:40449800-40452800	Weak transcription	Primary T cells from cord blood	blood
28	chr15:40450400-40452600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr15:40450400-40452600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:40450400-40452600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:40450400-40452600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr15:40450400-40452800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:40450400-40452800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:40450600-40452600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:40450600-40452600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:40450600-40452600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr15:40450600-40452800	Weak transcription	Fetal Intestine Small	intestine
38	chr15:40450600-40453000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:40450800-40452600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:40450800-40452600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:40450800-40452600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:40450800-40452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:40450800-40452800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:40450800-40452800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:40450800-40453200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:40451000-40452600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:40451000-40452800	Weak transcription	Primary B cells from cord blood	blood
48	chr15:40451000-40452800	Weak transcription	Placenta	Placenta
49	chr15:40451400-40452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:40452200-40452600	Enhancers	HepG2	liver

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