Variant report

Variant	rs62018940
Chromosome Location	chr15:43993175-43993176
allele	A/C
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	SPI1	chr15:43993049-43993274	K562	blood:	n/a	chr15:43993090-43993099 chr15:43993182-43993195 chr15:43993185-43993194 chr15:43993186-43993193
2	SPI1	chr15:43993086-43993305	GM12878	blood:	n/a	chr15:43993090-43993099 chr15:43993182-43993195 chr15:43993185-43993194 chr15:43993186-43993193

Variant related genes	Relation type
RNU6-353P	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10163069	0.90[EUR][1000 genomes]
rs11070411	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12443084	0.86[EUR][1000 genomes]
rs12898584	0.83[EUR][1000 genomes]
rs12912881	0.81[EUR][1000 genomes]
rs17727853	0.83[EUR][1000 genomes]
rs17795279	0.83[EUR][1000 genomes]
rs2729494	0.84[EUR][1000 genomes]
rs28410121	0.89[EUR][1000 genomes]
rs2930529	0.85[EUR][1000 genomes]
rs2930530	0.85[EUR][1000 genomes]
rs2930531	0.84[EUR][1000 genomes]
rs3102448	0.82[EUR][1000 genomes]
rs3110081	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34681147	0.83[EUR][1000 genomes]
rs35105314	0.82[EUR][1000 genomes]
rs35333173	0.83[EUR][1000 genomes]
rs3862143	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3986209	0.90[EUR][1000 genomes]
rs4644832	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4923964	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4923965	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs495880	0.86[EUR][1000 genomes]
rs528764	0.84[EUR][1000 genomes]
rs56226333	0.82[EUR][1000 genomes]
rs56246169	0.83[EUR][1000 genomes]
rs56380203	0.83[EUR][1000 genomes]
rs62018900	0.83[EUR][1000 genomes]
rs62018944	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6493090	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs654276	0.82[EUR][1000 genomes]
rs678084	0.84[EUR][1000 genomes]
rs7174260	0.90[EUR][1000 genomes]
rs7178230	0.90[EUR][1000 genomes]
rs8030536	0.83[EUR][1000 genomes]
rs8038068	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS 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 miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv428304	chr15:43823158-44008580	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	nsv428633	chr15:43823160-44008580	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv2757598	chr15:43831923-44058634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2761766	chr15:43834318-44014255	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv904149	chr15:43836478-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv904150	chr15:43836478-44040965	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	esv2760393	chr15:43845422-44024490	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv904156	chr15:43852043-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv904157	chr15:43852043-44019592	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv904158	chr15:43852043-44053617	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	nsv1514	chr15:43859260-43996580	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv904162	chr15:43873489-44011113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv904163	chr15:43873489-44023963	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
20	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription 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 miRNA target site	90 gene(s)	inside rSNPs	diseases
21	esv33424	chr15:43888955-43995223	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
22	nsv1049269	chr15:43893072-43995876	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv1054620	chr15:43893072-44014139	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
24	nsv904171	chr15:43895643-44016417	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv869676	chr15:43895704-44016490	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
26	nsv1053621	chr15:43896250-43995876	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	nsv1048538	chr15:43914737-44014139	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
28	nsv1038991	chr15:43914737-44024490	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
29	nsv1036148	chr15:43929339-44014139	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
30	nsv1047213	chr15:43929339-44024490	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
31	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
32	nsv976928	chr15:43948866-44040886	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
33	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62018940	STRC	cis	lung	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43969800-43993400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:43985000-43996800	Weak transcription	NHEK	skin
3	chr15:43985200-43994600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:43987000-43994200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr15:43987000-43995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:43987000-43996400	Weak transcription	Gastric	stomach
7	chr15:43987200-43996800	Weak transcription	HMEC	breast
8	chr15:43987400-43994200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:43987400-43998600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:43987800-43994400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:43987800-43996400	Weak transcription	Fetal Intestine Large	intestine
12	chr15:43988000-43994200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:43988200-43995000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:43988200-43996600	Weak transcription	Colonic Mucosa	Colon
15	chr15:43989000-43998200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:43989800-43996600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:43990000-43993800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr15:43990000-43996400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:43990000-43996600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:43990000-43998200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:43990000-43998200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:43991400-43998600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:43992400-43993600	Strong transcription	Fetal Intestine Small	intestine
24	chr15:43992600-43993800	Strong transcription	Placenta	Placenta
25	chr15:43992600-43995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:43992800-43997600	Weak transcription	Esophagus	oesophagus

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