Variant report

Variant	rs45441198
Chromosome Location	chr14:104002611-104002612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103793692..103795249-chr14:104002201..104004870,2	K562	blood:
2	chr14:104002192..104004863-chr14:104043017..104044904,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10133035	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10135868	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10141388	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10141433	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10150072	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1022736	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1136165	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11621037	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11623470	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11626787	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11627529	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11628213	0.87[EUR][1000 genomes]
rs11628969	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1467561	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17617941	0.87[EUR][1000 genomes]
rs1803283	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2296484	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2296486	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2403180	0.84[EUR][1000 genomes]
rs28583452	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34216351	0.83[EUR][1000 genomes]
rs3742458	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3759584	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3783402	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55723020	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55859054	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56365443	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62006268	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62007718	0.84[EUR][1000 genomes]
rs62007719	0.84[EUR][1000 genomes]
rs7145113	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7156150	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7160208	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7160366	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72710714	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8013101	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8015918	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8019578	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs879552	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9671911	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
11	esv1834605	chr14:103969909-104003091	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv902301	chr14:103979953-104003094	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	esv1850440	chr14:103979953-104007555	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv902302	chr14:103979953-104018455	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
16	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
17	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv827068	chr14:103982866-104021347	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv902306	chr14:103984294-104003094	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv1835145	chr14:103984294-104014935	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
21	nsv902307	chr14:103986155-104003094	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	esv1851656	chr14:103987140-104007555	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
23	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
24	esv1794331	chr14:103988059-104004311	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
25	nsv566021	chr14:103989639-104012982	Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
26	esv1819920	chr14:103989971-104018096	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
27	nsv9170	chr14:103994260-104017971	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs45441198	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs45441198	MARK3	cis	Thyroid	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996600-104002800	Genic enhancers	Fetal Stomach	stomach
2	chr14:103996800-104002800	Weak transcription	HSMMtube	muscle
3	chr14:103996800-104004000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:103996800-104004000	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr14:103996800-104004600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:103996800-104005000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
8	chr14:103997000-104003400	Strong transcription	NHLF	lung
9	chr14:103997000-104004800	Weak transcription	Psoas Muscle	Psoas
10	chr14:103997200-104003000	Strong transcription	Fetal Brain Female	brain
11	chr14:103997200-104003200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:103997200-104003400	Strong transcription	NHEK	skin
13	chr14:103997200-104004000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:103997200-104004600	Weak transcription	Fetal Heart	heart
15	chr14:103997200-104005400	Weak transcription	Fetal Lung	lung
16	chr14:103997400-104002800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:103997400-104003600	Weak transcription	NH-A	brain
18	chr14:103997400-104005000	Weak transcription	GM12878-XiMat	blood
19	chr14:103997600-104003200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:103997600-104003400	Strong transcription	Brain Germinal Matrix	brain
21	chr14:103997600-104006800	Weak transcription	Small Intestine	intestine
22	chr14:103997600-104013000	Weak transcription	K562	blood
23	chr14:103997800-104003000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:103997800-104003000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:103997800-104003400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:103997800-104004600	Weak transcription	Brain Angular Gyrus	brain
27	chr14:103997800-104004800	Weak transcription	Hela-S3	cervix
28	chr14:103998000-104003200	Weak transcription	HepG2	liver
29	chr14:103998000-104003200	Weak transcription	HSMM	muscle
30	chr14:103998200-104002800	Strong transcription	Brain Hippocampus Middle	brain
31	chr14:103998200-104003200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:103998400-104003400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:103998400-104003600	Strong transcription	Lung	lung
34	chr14:103998600-104002800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:103998600-104003000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:103998800-104002800	Strong transcription	Thymus	Thymus
37	chr14:103998800-104003400	Strong transcription	Spleen	Spleen
38	chr14:103999000-104004200	Weak transcription	Brain Anterior Caudate	brain
39	chr14:103999200-104002800	Strong transcription	Pancreas	Pancrea
40	chr14:103999200-104004600	Weak transcription	HMEC	breast
41	chr14:103999400-104002800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:103999400-104003400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:103999400-104003600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:103999400-104003600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:103999400-104004600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr14:103999400-104006800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:104000200-104002800	Strong transcription	A549	lung
48	chr14:104000200-104003400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:104000200-104003800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:104000600-104008000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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