Variant report

Variant	rs9744045
Chromosome Location	chr15:59074843-59074844
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	chr15:59037438..59039932-chr15:59074278..59075927,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11071396	0.90[EUR][1000 genomes]
rs11629654	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11631799	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12900320	0.83[AMR][1000 genomes]
rs12901817	0.83[AMR][1000 genomes]
rs17236243	0.89[EUR][1000 genomes]
rs28537903	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28549775	0.81[AMR][1000 genomes]
rs28617688	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28812884	0.80[AMR][1000 genomes]
rs34362744	0.81[AMR][1000 genomes]
rs34546804	0.82[EUR][1000 genomes]
rs406699	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4774311	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4775095	0.81[AMR][1000 genomes]
rs481309	0.81[AMR][1000 genomes]
rs500057	0.81[AMR][1000 genomes]
rs501165	0.81[AMR][1000 genomes]
rs510759	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs556256	0.81[AMR][1000 genomes]
rs561903	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs574683	0.81[AMR][1000 genomes]
rs596094	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs597112	0.81[AMR][1000 genomes]
rs601795	0.81[AMR][1000 genomes]
rs625312	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs652193	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs654857	0.80[AMR][1000 genomes]
rs654870	0.80[AMR][1000 genomes]
rs655348	0.80[EUR][1000 genomes]
rs664936	0.83[AFR][1000 genomes]
rs681711	0.90[EUR][1000 genomes]
rs684505	0.81[AMR][1000 genomes]
rs688343	0.81[AMR][1000 genomes]
rs7164053	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7164844	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7168275	0.80[EUR][1000 genomes]
rs7170538	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7171198	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7173286	0.80[EUR][1000 genomes]
rs7174187	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7178970	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7183900	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8023706	0.86[EUR][1000 genomes]
rs8032298	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8033478	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646204	0.89[EUR][1000 genomes]
rs9788674	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59064600-59081000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:59064600-59085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:59064600-59102800	Weak transcription	Lung	lung
4	chr15:59064600-59102800	Weak transcription	Pancreas	Pancrea
5	chr15:59064600-59103200	Weak transcription	Esophagus	oesophagus
6	chr15:59064600-59145600	Weak transcription	Gastric	stomach
7	chr15:59064800-59095400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:59065200-59117800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:59065600-59082600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:59065800-59077800	Weak transcription	Psoas Muscle	Psoas
11	chr15:59065800-59082600	Weak transcription	Placenta	Placenta
12	chr15:59065800-59094600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:59065800-59095000	Weak transcription	Fetal Thymus	thymus
14	chr15:59065800-59102800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:59065800-59103200	Weak transcription	NH-A	brain
16	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
17	chr15:59066000-59085200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:59066000-59095000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:59066000-59102400	Weak transcription	HSMM	muscle
20	chr15:59066200-59081600	Weak transcription	Fetal Muscle Leg	muscle
21	chr15:59066200-59084200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:59066200-59095000	Weak transcription	Osteobl	bone
23	chr15:59066200-59095600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:59066400-59084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:59066400-59085200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:59066400-59091000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:59066400-59095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:59066400-59095000	Weak transcription	Fetal Intestine Large	intestine
29	chr15:59066600-59078200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:59066600-59102400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:59066800-59077000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:59066800-59078600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:59067000-59082600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:59067000-59083600	Weak transcription	HMEC	breast
35	chr15:59067000-59094600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:59067000-59094800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr15:59067000-59102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:59067000-59102800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:59067000-59102800	Weak transcription	NHDF-Ad	bronchial
40	chr15:59067000-59157800	Weak transcription	Hela-S3	cervix
41	chr15:59067200-59077400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:59067200-59080400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr15:59067200-59094800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:59067200-59095000	Weak transcription	Fetal Lung	lung
45	chr15:59067200-59103200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr15:59067400-59076000	Weak transcription	Thymus	Thymus
47	chr15:59067400-59077200	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:59067400-59085400	Weak transcription	NHEK	skin
49	chr15:59067400-59102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr15:59067400-59102800	Weak transcription	Brain Angular Gyrus	brain

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