Variant report

Variant	rs9926717
Chromosome Location	chr16:31471378-31471379
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	E2F4	chr16:31471254-31471388	GM12878	blood:	n/a	n/a
2	E2F4	chr16:31470430-31471597	MCF10A-Er-Src	breast:	n/a	chr16:31470735-31470750 chr16:31471234-31471242 chr16:31471472-31471481 chr16:31471470-31471479 chr16:31470482-31470491
3	CEBPB	chr16:31470528-31471635	HepG2	liver:	n/a	n/a
4	MYC	chr16:31469259-31471590	K562	blood:	n/a	chr16:31471466-31471475 chr16:31469553-31469569
5	POLR2A	chr16:31469912-31471556	A549	lung:	n/a	n/a
6	CEBPB	chr16:31471210-31471593	K562	blood:	n/a	n/a
7	CTCF	chr16:31468918-31472489	A549	lung:	n/a	chr16:31470418-31470436 chr16:31472184-31472202 chr16:31472186-31472199 chr16:31472179-31472200 chr16:31469573-31469586 chr16:31472185-31472201
8	ELF1	chr16:31470070-31471581	SK-N-SH	brain:	n/a	chr16:31470690-31470701 chr16:31470690-31470701 chr16:31470691-31470700
9	MAFK	chr16:31471255-31471594	K562	blood:	n/a	n/a
10	CEBPB	chr16:31470324-31471619	HepG2	liver:	n/a	n/a
11	RFX5	chr16:31470248-31471668	Hela-S3	cervix:	n/a	n/a
12	ELF1	chr16:31469172-31471469	GM12878	blood:	n/a	chr16:31470690-31470701 chr16:31470690-31470701 chr16:31470691-31470700
13	GABPA	chr16:31470028-31471576	SK-N-SH	brain:	n/a	chr16:31470482-31470491
14	ZNF263	chr16:31471214-31471643	HEK293-T-REx	kidney:	n/a	n/a
15	FOXP2	chr16:31470469-31471440	SK-N-MC	brain:	n/a	n/a
16	TCF7L2	chr16:31470245-31471501	HCT-116	colon:	n/a	n/a
17	SMC3	chr16:31469236-31471626	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr16:31469212-31471516	GM12878	blood:	n/a	n/a
19	GATA1	chr16:31470340-31472018	PBDE	blood:	n/a	n/a
20	RCOR1	chr16:31470074-31471484	HepG2	liver:	n/a	n/a
21	HEY1	chr16:31469204-31471566	K562	blood:	n/a	chr16:31470134-31470149 chr16:31470084-31470099 chr16:31471470-31471479 chr16:31471472-31471481
22	TCF7L2	chr16:31471216-31471554	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr16:31469329-31472087	K562	blood:	n/a	n/a
24	MXI1	chr16:31469217-31471568	HepG2	liver:	n/a	chr16:31469405-31469414
25	HCFC1	chr16:31469109-31471948	Hela-S3	cervix:	n/a	n/a
26	MYC	chr16:31469225-31471598	K562	blood:	n/a	chr16:31471466-31471475 chr16:31469553-31469569
27	CREB1	chr16:31470325-31471752	H1-hESC	embryonic stem cell:	n/a	chr16:31471469-31471482
28	STAT3	chr16:31470703-31471542	MCF10A-Er-Src	breast:	n/a	n/a
29	PML	chr16:31470208-31471621	MCF-7	breast:	n/a	n/a
30	POLR2A	chr16:31469283-31471622	K562	blood:	n/a	n/a
31	REST	chr16:31469793-31472299	H1-neurons	neurons:	n/a	chr16:31470354-31470368 chr16:31470745-31470752
32	SIN3AK20	chr16:31469065-31471835	MCF-7	breast:	n/a	n/a
33	NRF1	chr16:31471018-31471470	H1-hESC	embryonic stem cell:	n/a	chr16:31471213-31471224
34	STAT3	chr16:31470553-31471652	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr16:31471124-31471691	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr16:31470072-31471485	A549	lung:	n/a	n/a
37	POLR2A	chr16:31471157-31471493	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr16:31470034-31471590	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr16:31469338-31471514	GM12878	blood:	n/a	chr16:31471466-31471475 chr16:31469553-31469569
40	GABPA	chr16:31469749-31471543	SK-N-SH	brain:	n/a	chr16:31470482-31470491
41	EBF1	chr16:31471234-31471448	GM12878	blood:	n/a	n/a
42	TBP	chr16:31470215-31471430	HepG2	liver:	n/a	n/a
43	EP300	chr16:31470520-31471474	HepG2	liver:	n/a	chr16:31470691-31470698
44	MXI1	chr16:31468838-31472733	SK-N-SH	brain:	n/a	chr16:31469405-31469414
45	POLR2A	chr16:31469298-31471560	GM18505	blood:	n/a	n/a
46	TBL1XR1	chr16:31471313-31471833	K562	blood:	n/a	n/a
47	RAD21	chr16:31471069-31472807	SK-N-SH	brain:	n/a	chr16:31472182-31472201
48	POLR2A	chr16:31470236-31471555	K562	blood:	n/a	n/a
49	POLR2A	chr16:31469116-31471666	HL-60	blood:	n/a	n/a
50	POLR2A	chr16:31469120-31471708	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31190494..31194030-chr16:31469173..31472392,6	MCF-7	breast:
2	chr16:31470762..31471597-chr3:141595023..141595997,2	Hela-S3	cervix:
3	chr16:31468972..31472729-chr16:31517678..31523478,11	K562	blood:
4	chr16:31152453..31155232-chr16:31471314..31474236,2	K562	blood:
5	chr16:31453063..31456087-chr16:31468584..31471837,4	K562	blood:
6	chr16:31469520..31471789-chr16:31495046..31498029,3	MCF-7	breast:
7	chr16:30967074..30970924-chr16:31469051..31472537,7	K562	blood:
8	chr16:30967183..30971961-chr16:31469060..31471569,4	MCF-7	breast:
9	chr16:31465649..31475592-chr16:31481764..31491028,24	MCF-7	breast:
10	chr16:8890468..8892714-chr16:31469451..31471408,2	MCF-7	breast:
11	chr16:31463366..31472153-chr16:31517209..31524290,14	MCF-7	breast:
12	chr16:31190035..31193017-chr16:31469730..31472646,5	K562	blood:
13	chr16:31189995..31193017-chr16:31468555..31472249,11	K562	blood:
14	chr16:31210690..31213656-chr16:31469495..31472213,2	MCF-7	breast:
15	chr16:31467317..31473648-chr16:31720179..31727010,13	MCF-7	breast:
16	chr16:30994765..30996927-chr16:31470856..31472697,2	K562	blood:
17	chr16:31470729..31471582-chr19:12792012..12792680,2	Hela-S3	cervix:
18	chr16:31468059..31475073-chr16:31494279..31502185,17	MCF-7	breast:
19	chr16:31195044..31196734-chr16:31471176..31472884,2	K562	blood:
20	chr16:30995614..30997956-chr16:31470611..31472906,2	MCF-7	breast:
21	chr16:31467955..31471666-chr16:31883019..31886709,4	MCF-7	breast:
22	chr16:31466906..31472700-chr16:31708858..31713293,7	K562	blood:
23	chr16:31117883..31120430-chr16:31468936..31471435,2	MCF-7	breast:
24	chr16:31453017..31458651-chr16:31467711..31471563,6	K562	blood:
25	chr16:31469614..31471877-chr16:31713296..31715229,2	K562	blood:
26	chr16:31082772..31088721-chr16:31466605..31471958,8	MCF-7	breast:
27	chr16:31468357..31473774-chr16:31516772..31522690,14	K562	blood:
28	chr16:31466606..31474995-chr16:31481116..31490982,25	MCF-7	breast:
29	chr16:31438153..31440436-chr16:31470611..31472702,2	K562	blood:
30	chr16:31127569..31130475-chr16:31469319..31471867,2	K562	blood:
31	chr16:31144729..31147101-chr16:31468783..31472042,3	MCF-7	breast:
32	chr16:31468593..31471652-chr16:31724469..31726799,3	K562	blood:
33	chr11:62608717..62609620-chr16:31470316..31471600,4	Hela-S3	cervix:
34	chr16:30967074..30970924-chr16:31469051..31472279,6	K562	blood:
35	chr16:31468309..31472565-chr16:31709404..31716221,13	MCF-7	breast:
36	chr16:31190531..31192640-chr16:31471297..31473872,2	MCF-7	breast:
37	chr16:31469119..31472117-chr6:86351411..86353551,2	MCF-7	breast:
38	chr16:31468899..31473390-chr16:31518411..31522821,12	MCF-7	breast:
39	chr16:31198823..31201315-chr16:31470098..31472818,2	K562	blood:
40	chr16:31467289..31472159-chr16:31708858..31713201,6	K562	blood:

Variant related genes	Relation type
ENSG00000260267	TF binding region
ENSG00000140688	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000260472	Chromatin interaction
ENSG00000184857	Chromatin interaction
ENSG00000095059	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000140650	Chromatin interaction
ENSG00000069849	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000185947	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000156885	Chromatin interaction
ENSG00000140682	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000261359	Chromatin interaction
ENSG00000260568	Chromatin interaction
ENSG00000135316	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000261731	Chromatin interaction
ENSG00000260740	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000178226	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11150626	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11865835	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13143	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13337037	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34081766	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3934739	0.94[EUR][1000 genomes]
rs6565235	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6565236	0.94[EUR][1000 genomes]
rs7188278	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8062314	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9934336	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
8	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
9	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
10	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9926717	AC026471.6	cis	lung	GTEx
rs9926717	SLC5A2	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31468600-31472000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:31468800-31471600	Active TSS	A549	lung
3	chr16:31469000-31471400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr16:31469000-31471600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr16:31469000-31471600	Active TSS	Psoas Muscle	Psoas
6	chr16:31469000-31471600	Active TSS	HSMMtube	muscle
7	chr16:31469000-31472000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr16:31469000-31472000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr16:31469000-31472000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr16:31469000-31472000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr16:31469000-31472000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr16:31469200-31471800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:31469200-31471800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:31469200-31472000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr16:31469400-31471400	Active TSS	Fetal Intestine Small	intestine
16	chr16:31469400-31471400	Active TSS	NHDF-Ad	bronchial
17	chr16:31469400-31471600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:31469400-31471600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:31469400-31471600	Active TSS	Fetal Intestine Large	intestine
20	chr16:31469400-31471800	Active TSS	Ovary	ovary
21	chr16:31469400-31472000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:31469400-31472200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:31469600-31471400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:31469600-31471400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:31469600-31471400	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr16:31469600-31471400	Active TSS	Muscle Satellite Cultured Cells	--
27	chr16:31469600-31471400	Active TSS	Liver	Liver
28	chr16:31469600-31471400	Active TSS	Duodenum Mucosa	Duodenum
29	chr16:31469600-31471400	Active TSS	Pancreas	Pancrea
30	chr16:31469600-31471400	Active TSS	Stomach Mucosa	stomach
31	chr16:31469600-31471400	Active TSS	Hela-S3	cervix
32	chr16:31469600-31471600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr16:31469600-31471600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr16:31469600-31471600	Active TSS	Colon Smooth Muscle	Colon
35	chr16:31469600-31471600	Active TSS	Fetal Heart	heart
36	chr16:31469600-31471600	Active TSS	Gastric	stomach
37	chr16:31469600-31471600	Active TSS	Left Ventricle	heart
38	chr16:31469600-31471600	Active TSS	HSMM	muscle
39	chr16:31469600-31471800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:31469600-31471800	Active TSS	Aorta	Aorta
41	chr16:31469600-31471800	Active TSS	Fetal Kidney	kidney
42	chr16:31469600-31472200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr16:31469800-31471400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:31469800-31471400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr16:31469800-31471400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr16:31469800-31471400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr16:31469800-31471400	Active TSS	Brain Hippocampus Middle	brain
48	chr16:31469800-31471400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr16:31469800-31471400	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr16:31469800-31471400	Active TSS	HMEC	breast

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