Variant report

Variant	rs7169603
Chromosome Location	chr15:43300425-43300426
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	chr15:43285221..43287358-chr15:43299885..43302016,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11070385	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070389	0.86[EUR][1000 genomes]
rs11631404	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1197533	0.86[EUR][1000 genomes]
rs12050604	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1206698	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12440652	0.80[ASN][1000 genomes]
rs12904179	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12913112	0.86[EUR][1000 genomes]
rs12913134	0.86[EUR][1000 genomes]
rs12913213	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12913586	0.83[AMR][1000 genomes]
rs13329073	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1381855	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1474200	0.87[EUR][1000 genomes]
rs2056346	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2126603	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2169581	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2277532	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2682074	0.86[EUR][1000 genomes]
rs28407836	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28646262	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28715020	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28805017	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28890597	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4923952	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4923956	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4924702	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56114844	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62020697	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62020699	0.83[AMR][1000 genomes]
rs62020705	0.81[EUR][1000 genomes]
rs62020706	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493068	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6493069	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7165888	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7173097	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7176915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7178752	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7496079	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8025479	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8028731	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8028822	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8036096	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9635327	0.87[EUR][1000 genomes]
rs9796559	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9806175	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv1050987	chr15:43237103-43385515	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv542369	chr15:43237103-43385515	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv904137	chr15:43268970-43392075	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv904138	chr15:43268970-43414673	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
17	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv904140	chr15:43276345-43385147	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv904141	chr15:43276345-43392075	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv904142	chr15:43276345-43403955	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv904143	chr15:43276345-43414673	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
23	esv3384283	chr15:43280479-43380788	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv904145	chr15:43286746-43392075	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv904146	chr15:43294218-43414673	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
26	nsv1048937	chr15:43299522-43357631	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7169603	TGM5	cis	lymphoblastoid	seeQTL
rs7169603	TTBK2	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43248000-43320600	Weak transcription	Stomach Mucosa	stomach
3	chr15:43267200-43323000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:43269000-43312800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:43269800-43314800	Weak transcription	Fetal Brain Male	brain
7	chr15:43269800-43335200	Weak transcription	Small Intestine	intestine
8	chr15:43270400-43300600	Weak transcription	K562	blood
9	chr15:43277000-43307800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:43282600-43301400	Weak transcription	Psoas Muscle	Psoas
11	chr15:43287400-43346000	Weak transcription	A549	lung
12	chr15:43289800-43307800	Weak transcription	Hela-S3	cervix
13	chr15:43291600-43306200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:43292000-43316000	Weak transcription	Fetal Heart	heart
15	chr15:43293200-43301000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:43293200-43307400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:43293400-43306000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:43294000-43306000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr15:43294200-43306200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:43294400-43301200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr15:43294400-43303400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:43294400-43304200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:43294400-43306200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:43294600-43300600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr15:43295800-43303000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:43296200-43312800	Weak transcription	HMEC	breast
27	chr15:43296400-43301000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:43296400-43302000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:43296400-43302400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:43296800-43306800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:43297000-43302600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:43297200-43303400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:43297400-43309800	Strong transcription	Fetal Muscle Leg	muscle
34	chr15:43297400-43348000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr15:43298000-43306000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:43298200-43300600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:43298200-43301000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr15:43298200-43301600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr15:43298200-43304000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:43298400-43300600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:43298400-43300600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:43298400-43301800	Strong transcription	Colonic Mucosa	Colon
43	chr15:43298400-43302000	Strong transcription	Liver	Liver
44	chr15:43298400-43302000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr15:43298400-43302000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr15:43298400-43302000	ZNF genes & repeats	Dnd41	blood
47	chr15:43298400-43302200	Strong transcription	HSMM	muscle
48	chr15:43298400-43302600	Strong transcription	Left Ventricle	heart
49	chr15:43298400-43302600	Strong transcription	NH-A	brain
50	chr15:43298400-43302800	Strong transcription	Primary T cells from cord blood	blood

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