Variant report

Variant	rs62384469
Chromosome Location	chr5:115624964-115624965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr5:115624912-115625329	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr5:115624924-115625291	HepG2	liver:	n/a	n/a
3	CTCF	chr5:115624880-115625030	A549	lung:	n/a	n/a
4	CTCF	chr5:115624940-115625090	GM12866	blood:	n/a	n/a
5	CTCF	chr5:115624925-115625272	H1-hESC	embryonic stem cell:	n/a	chr5:115625169-115625182
6	RAD21	chr5:115624960-115625395	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr5:115624842-115625330	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr5:115624962-115625365	H1-hESC	embryonic stem cell:	n/a	chr5:115625169-115625182

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115473058..115473763-chr5:115624723..115625238,2	MCF-7	breast:

Variant related genes	Relation type
COMMD10	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10035646	0.82[EUR][1000 genomes]
rs10036292	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10040345	0.82[EUR][1000 genomes]
rs10042278	0.82[EUR][1000 genomes]
rs10043228	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10051240	0.86[EUR][1000 genomes]
rs10052306	0.82[EUR][1000 genomes]
rs10054248	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10063296	0.82[EUR][1000 genomes]
rs10073364	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10079089	0.82[EUR][1000 genomes]
rs10079394	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10155600	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10519448	0.86[EUR][1000 genomes]
rs12152964	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12153338	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153717	0.86[EUR][1000 genomes]
rs12153778	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332489	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12332585	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12332658	0.86[EUR][1000 genomes]
rs12514110	0.83[ASN][1000 genomes]
rs12515251	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515466	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12518094	0.81[AMR][1000 genomes]
rs12519989	0.86[EUR][1000 genomes]
rs12520568	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12520613	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12520632	0.90[EUR][1000 genomes]
rs12521440	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521612	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12522027	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12522441	0.82[EUR][1000 genomes]
rs12523347	0.86[EUR][1000 genomes]
rs13362043	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1382339	0.86[EUR][1000 genomes]
rs1422500	0.86[EUR][1000 genomes]
rs1592917	0.86[EUR][1000 genomes]
rs17139192	0.86[EUR][1000 genomes]
rs17139193	0.86[EUR][1000 genomes]
rs17139224	0.86[EUR][1000 genomes]
rs17139265	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17139314	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17139457	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35696109	0.82[EUR][1000 genomes]
rs4283834	0.82[EUR][1000 genomes]
rs4398671	0.86[EUR][1000 genomes]
rs59447169	0.82[EUR][1000 genomes]
rs62384212	0.82[EUR][1000 genomes]
rs62384213	0.82[EUR][1000 genomes]
rs62384215	0.82[EUR][1000 genomes]
rs62384229	0.82[EUR][1000 genomes]
rs62384230	0.82[EUR][1000 genomes]
rs62384231	0.82[EUR][1000 genomes]
rs62384233	0.82[EUR][1000 genomes]
rs62384235	0.82[EUR][1000 genomes]
rs62384236	0.82[EUR][1000 genomes]
rs62384237	0.86[EUR][1000 genomes]
rs62384238	0.86[EUR][1000 genomes]
rs62384250	0.82[EUR][1000 genomes]
rs62384253	0.82[EUR][1000 genomes]
rs62384461	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62384468	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62384471	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384476	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62384477	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62384491	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385975	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62385980	0.90[EUR][1000 genomes]
rs62385993	0.90[EUR][1000 genomes]
rs6866938	0.81[AMR][1000 genomes]
rs6873096	0.81[AMR][1000 genomes]
rs6873950	0.81[AMR][1000 genomes]
rs6876972	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880880	0.86[EUR][1000 genomes]
rs7443669	0.82[EUR][1000 genomes]
rs7727882	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882743	chr5:115501792-115634127	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv34428	chr5:115575513-115626966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2753795	chr5:115576026-115626966	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2755740	chr5:115576139-115633474	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv2757134	chr5:115578810-115633474	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv2759372	chr5:115578810-115633474	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2760969	chr5:115583627-115630890	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1018714	chr5:115586834-115625245	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2422101	chr5:115594144-115625228	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1017822	chr5:115596277-115625216	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1019259	chr5:115596277-115625245	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv34342	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv2756234	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv432800	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1028323	chr5:115596277-115627008	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1020633	chr5:115596277-115629523	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv1023495	chr5:115596277-115629769	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv2752575	chr5:115596277-115633474	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv442961	chr5:115596334-115625228	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv1018649	chr5:115596350-115629523	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv1015300	chr5:115597953-115629523	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv1028664	chr5:115601522-115630878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	nsv1029334	chr5:115605092-115625245	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv1034438	chr5:115612225-115630878	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62384469	COMMD10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115612800-115633200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:115612800-115633200	Weak transcription	Ovary	ovary
3	chr5:115613400-115628200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:115613400-115641600	Weak transcription	HSMM	muscle
5	chr5:115613600-115632000	Weak transcription	Fetal Heart	heart
6	chr5:115613600-115633000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:115623800-115625400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
8	chr5:115624000-115626400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:115624200-115631800	Weak transcription	Liver	Liver
10	chr5:115624400-115627000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:115624400-115627800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:115624400-115631800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:115624400-115633200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:115624400-115633600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:115624600-115627600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:115624600-115627800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:115624600-115627800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:115624600-115628200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:115624800-115625000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr5:115624800-115626600	Strong transcription	Primary T cells from cord blood	blood
21	chr5:115624800-115628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:115624800-115628000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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