Variant report

Variant	rs11866146
Chromosome Location	chr16:31519808-31519809
allele	C/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	JUND	chr16:31519457-31520038	MCF-7	breast:	n/a	n/a
2	MYBL2	chr16:31519493-31520154	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:31519194-31520322	PFSK-1	brain:	n/a	n/a
4	SRF	chr16:31519585-31519931	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr16:31519586-31519925	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr16:31519540-31520063	A549	lung:	n/a	n/a
7	GTF2B	chr16:31519374-31519900	K562	blood:	n/a	n/a
8	YY1	chr16:31519247-31520015	ECC-1	luminal epithelium:	n/a	chr16:31519300-31519309 chr16:31519799-31519813 chr16:31519718-31519729
9	TAF1	chr16:31519505-31520027	SK-N-SH	brain:	n/a	n/a
10	RELA	chr16:31519435-31520069	GM15510	blood:	n/a	n/a
11	ZBTB7A	chr16:31518994-31519969	ECC-1	luminal epithelium:	n/a	n/a
12	SIN3AK20	chr16:31519244-31520071	SK-N-SH	brain:	n/a	n/a
13	TBL1XR1	chr16:31519428-31519866	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:31518957-31520076	HepG2	liver:	n/a	n/a
15	YY1	chr16:31519329-31520012	H1-hESC	embryonic stem cell:	n/a	chr16:31519799-31519813 chr16:31519718-31519729
16	POLR2A	chr16:31518169-31520242	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:31519128-31520131	GM12891	blood:	n/a	n/a
18	POLR2A	chr16:31519290-31520045	HCT-116	colon:	n/a	n/a
19	POLR2A	chr16:31519431-31520085	K562	blood:	n/a	n/a
20	BHLHE40	chr16:31519381-31519996	K562	blood:	n/a	n/a
21	YY1	chr16:31519493-31519890	K562	blood:	n/a	chr16:31519799-31519813 chr16:31519718-31519729
22	POLR2A	chr16:31519204-31520044	Hela-S3	cervix:	n/a	n/a
23	ETS1	chr16:31519480-31519892	K562	blood:	n/a	chr16:31519748-31519759 chr16:31519747-31519763 chr16:31519750-31519759 chr16:31519748-31519758 chr16:31519752-31519761 chr16:31519750-31519759 chr16:31519750-31519759 chr16:31519750-31519759 chr16:31519750-31519759 chr16:31519749-31519762
24	SMC3	chr16:31519017-31520084	Hela-S3	cervix:	n/a	n/a
25	WRNIP1	chr16:31519682-31520326	GM12878	blood:	n/a	n/a
26	ELF1	chr16:31519201-31520080	HepG2	liver:	n/a	chr16:31519714-31519726 chr16:31519849-31519861 chr16:31519750-31519761 chr16:31519801-31519813 chr16:31519751-31519760
27	ELF1	chr16:31519342-31520013	GM12878	blood:	n/a	chr16:31519714-31519726 chr16:31519849-31519861 chr16:31519750-31519761 chr16:31519801-31519813 chr16:31519751-31519760
28	ELF1	chr16:31519329-31519960	HepG2	liver:	n/a	chr16:31519714-31519726 chr16:31519849-31519861 chr16:31519750-31519761 chr16:31519801-31519813 chr16:31519751-31519760
29	POLR2A	chr16:31519325-31520142	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr16:31519017-31520815	K562	blood:	n/a	n/a
31	MAX	chr16:31519177-31520142	MCF-7	breast:	n/a	n/a
32	POLR2A	chr16:31519018-31520031	NB4	blood:	n/a	n/a
33	KAP1	chr16:31519381-31520165	HEK293	kidney:	n/a	n/a
34	POLR2A	chr16:31519258-31520098	Raji	blood:	n/a	n/a
35	REST	chr16:31519560-31519937	SK-N-SH	brain:	n/a	n/a
36	CEBPD	chr16:31519583-31519911	HepG2	liver:	n/a	n/a
37	RUNX3	chr16:31519510-31519969	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:31519009-31520177	MCF-7	breast:	n/a	n/a
39	CHD2	chr16:31519372-31520171	GM12878	blood:	n/a	n/a
40	PAX5	chr16:31519556-31519907	GM12878	blood:	n/a	n/a
41	POLR2A	chr16:31519416-31520030	GM12878	blood:	n/a	n/a
42	POU2F2	chr16:31519509-31519968	GM12878	blood:	n/a	chr16:31519714-31519726
43	FOSL2	chr16:31519496-31520005	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr16:31519235-31520205	MCF-7	breast:	n/a	n/a
45	TAF1	chr16:31519541-31519977	GM12891	blood:	n/a	n/a
46	MXI1	chr16:31519297-31520045	K562	blood:	n/a	n/a
47	HDAC2	chr16:31519276-31519870	MCF-7	breast:	n/a	n/a
48	YY1	chr16:31519514-31519839	GM12891	blood:	n/a	chr16:31519799-31519813 chr16:31519718-31519729
49	ELF1	chr16:31519299-31520066	K562	blood:	n/a	chr16:31519714-31519726 chr16:31519849-31519861 chr16:31519750-31519761 chr16:31519801-31519813 chr16:31519751-31519760
50	MYC	chr16:31519560-31519901	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31517279..31520874-chr16:31722197..31727504,6	MCF-7	breast:
2	chr16:31494997..31499043-chr16:31517756..31521950,4	K562	blood:
3	chr16:31519299..31520039-chr6:35435669..35436598,2	HCT-116	colon:
4	chr16:31481376..31484276-chr16:31519285..31521056,3	K562	blood:
5	chr16:31497480..31508766-chr16:31514543..31521176,19	MCF-7	breast:
6	chr16:31494997..31497772-chr16:31517756..31520591,2	K562	blood:
7	chr16:31499254..31501326-chr16:31519368..31521202,2	K562	blood:
8	chr16:31482449..31485901-chr16:31517810..31523430,5	MCF-7	breast:
9	chr16:31516310..31522725-chr16:31722480..31728998,9	MCF-7	breast:
10	chr16:30959582..30963121-chr16:31518179..31521498,3	K562	blood:
11	chr11:62606772..62609069-chr16:31518624..31521076,2	MCF-7	breast:
12	chr1:149858185..149858901-chr16:31519313..31519822,2	NB4	blood:
13	chr16:31517756..31521127-chr16:31538452..31541350,5	K562	blood:
14	chr16:31468357..31473774-chr16:31516772..31522690,14	K562	blood:
15	chr16:31517850..31520614-chr16:31538452..31541283,3	K562	blood:
16	chr16:31463366..31472153-chr16:31517209..31524290,14	MCF-7	breast:
17	chr16:31517989..31521434-chr16:31710261..31713968,8	MCF-7	breast:
18	chr16:31518688..31521069-chr16:31884964..31886817,2	MCF-7	breast:
19	chr16:31468899..31473390-chr16:31518411..31522821,12	MCF-7	breast:
20	chr16:31518488..31520792-chr16:31884835..31887460,2	MCF-7	breast:
21	chr1:153948948..153951767-chr16:31518333..31519994,2	MCF-7	breast:
22	chr16:31464355..31466816-chr16:31518466..31521334,2	K562	blood:
23	chr16:31468972..31472729-chr16:31517678..31523478,11	K562	blood:
24	chr16:31519406..31521220-chr16:31708209..31709807,2	K562	blood:
25	chr16:31505926..31509513-chr16:31519166..31521852,3	K562	blood:
26	chr16:31518385..31519907-chr9:131936177..131938099,2	MCF-7	breast:
27	chr16:31518205..31521975-chr16:31709546..31713435,8	MCF-7	breast:
28	chr16:31518111..31520799-chr16:31691550..31694170,2	MCF-7	breast:
29	chr16:31483184..31487045-chr16:31517740..31519918,3	K562	blood:
30	chr16:31519157..31521632-chr16:31883498..31885614,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC5A2-1	chr16:31519792-31520357	ENSG00000260625.1
2	lnc-SLC5A2-1	chr16:31519708-31520930	NONHSAT141926

Variant related genes	Relation type
C16orf58	TF binding region
ENSG00000143543	Chromatin interaction
ENSG00000169877	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000268050	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000261731	Chromatin interaction
ENSG00000185947	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000260631	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000140682	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000260740	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000260472	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000260568	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34303653	1.00[AMR][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	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
8	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
9	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
10	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31518200-31520800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr16:31518400-31520200	Active TSS	Fetal Kidney	kidney
3	chr16:31518400-31520600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr16:31518400-31520600	Active TSS	A549	lung
5	chr16:31518400-31520800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr16:31518400-31520800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:31518400-31521400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:31518600-31520200	Active TSS	Primary T cells from cord blood	blood
9	chr16:31518600-31520400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr16:31518600-31520400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr16:31518600-31520800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:31518800-31520400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr16:31518800-31520400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:31518800-31520400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:31518800-31520400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:31518800-31520400	Bivalent/Poised TSS	HepG2	liver
17	chr16:31518800-31520600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:31518800-31520600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:31518800-31520600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr16:31518800-31520600	Active TSS	GM12878-XiMat	blood
21	chr16:31518800-31520600	Active TSS	NHDF-Ad	bronchial
22	chr16:31518800-31520800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:31518800-31520800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr16:31518800-31520800	Active TSS	Psoas Muscle	Psoas
25	chr16:31518800-31520800	Active TSS	HSMM	muscle
26	chr16:31519000-31520000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr16:31519000-31520000	Active TSS	Stomach Mucosa	stomach
28	chr16:31519000-31520000	Active TSS	Hela-S3	cervix
29	chr16:31519000-31520000	Active TSS	NH-A	brain
30	chr16:31519000-31520000	Active TSS	NHEK	skin
31	chr16:31519000-31520200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:31519000-31520200	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr16:31519000-31520200	Active TSS	Colon Smooth Muscle	Colon
34	chr16:31519000-31520200	Active TSS	Fetal Lung	lung
35	chr16:31519000-31520200	Active TSS	Small Intestine	intestine
36	chr16:31519000-31520400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:31519000-31520400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr16:31519000-31520400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:31519000-31520400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:31519000-31520400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr16:31519000-31520400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:31519000-31520400	Active TSS	Fetal Heart	heart
43	chr16:31519000-31520400	Active TSS	Fetal Intestine Large	intestine
44	chr16:31519000-31520400	Active TSS	Gastric	stomach
45	chr16:31519000-31520600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr16:31519000-31520600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:31519000-31520600	Active TSS	Aorta	Aorta
48	chr16:31519000-31520600	Active TSS	Esophagus	oesophagus
49	chr16:31519000-31520600	Active TSS	Ovary	ovary
50	chr16:31519000-31520800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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