Variant report

Variant	rs62448562
Chromosome Location	chr7:12398785-12398786
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	chr7:12392619..12394669-chr7:12398215..12400869,2	K562	blood:
2	chr7:12398772..12400728-chr7:12416119..12417972,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10267801	1.00[ASN][1000 genomes]
rs10273045	1.00[ASN][1000 genomes]
rs10276171	1.00[ASN][1000 genomes]
rs10488158	1.00[ASN][1000 genomes]
rs12699381	1.00[ASN][1000 genomes]
rs12699388	1.00[ASN][1000 genomes]
rs13221702	1.00[ASN][1000 genomes]
rs13245635	1.00[ASN][1000 genomes]
rs13247370	1.00[ASN][1000 genomes]
rs1595800	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595802	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17191008	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17274870	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17277369	1.00[ASN][1000 genomes]
rs17444044	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17444141	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17448913	1.00[ASN][1000 genomes]
rs17541242	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17544637	1.00[ASN][1000 genomes]
rs17670901	0.81[AMR][1000 genomes]
rs17671056	0.81[AMR][1000 genomes]
rs1866650	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2033871	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053378	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053381	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053382	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28366613	1.00[ASN][1000 genomes]
rs34644264	1.00[ASN][1000 genomes]
rs34868445	1.00[ASN][1000 genomes]
rs34915661	1.00[ASN][1000 genomes]
rs35589221	1.00[ASN][1000 genomes]
rs4719315	1.00[ASN][1000 genomes]
rs4721088	0.81[AMR][1000 genomes]
rs4721105	1.00[ASN][1000 genomes]
rs4721106	1.00[ASN][1000 genomes]
rs4721107	1.00[ASN][1000 genomes]
rs4721108	1.00[ASN][1000 genomes]
rs62447638	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62447639	1.00[ASN][1000 genomes]
rs62447640	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62447641	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62447642	1.00[ASN][1000 genomes]
rs62448563	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448565	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62448566	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448568	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448593	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448594	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62448596	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448597	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448600	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62448602	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62448619	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62448620	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62448621	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62448623	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62449509	1.00[ASN][1000 genomes]
rs62451461	0.81[AMR][1000 genomes]
rs62451486	0.81[AMR][1000 genomes]
rs6460935	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460936	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460938	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460942	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944134	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944517	1.00[ASN][1000 genomes]
rs6945067	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948314	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948654	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961238	1.00[ASN][1000 genomes]
rs6966791	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968664	1.00[ASN][1000 genomes]
rs6968695	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969309	1.00[ASN][1000 genomes]
rs6970095	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977059	1.00[ASN][1000 genomes]
rs7791634	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802454	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7808537	1.00[ASN][1000 genomes]
rs7809263	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7811374	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
5	nsv887629	chr7:12304555-12400837	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv887630	chr7:12323757-12400837	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1029941	chr7:12351595-12444490	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv433030	chr7:12352210-12443042	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1034475	chr7:12352210-12444490	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1029098	chr7:12354108-12443042	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv887631	chr7:12360805-12434771	Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv887632	chr7:12360805-12439672	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv464371	chr7:12371801-12434771	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv606223	chr7:12371801-12434771	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv887633	chr7:12371801-12439672	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2763622	chr7:12375528-12424583	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv887634	chr7:12385391-12439672	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv470044	chr7:12392897-12434771	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62448562	TMEM106B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:12368200-12433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:12377000-12408000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:12381800-12429000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:12383400-12401800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:12385600-12418000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:12390000-12420600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:12390800-12401000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:12392200-12401800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:12393000-12401400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:12393000-12406000	Strong transcription	K562	blood
12	chr7:12393400-12401000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:12393400-12401200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:12394000-12408000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:12395400-12402400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:12397200-12418000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:12397600-12408200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:12398200-12398800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:12398600-12401800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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