Variant report

Variant	rs11645814
Chromosome Location	chr16:31147262-31147263
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31146722-31147278	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:31146872-31147402	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:31147090-31147280	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:31146873-31147479	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:31146684-31147342	MCF-7	breast:	n/a	n/a
6	MAX	chr16:31147163-31147495	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr16:31146847-31147592	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:31146700-31147282	HCT-116	colon:	n/a	n/a
9	JUND	chr16:31147183-31147293	K562	blood:	n/a	n/a
10	POLR2A	chr16:31145772-31147371	K562	blood:	n/a	n/a
11	FOXA1	chr16:31146910-31147292	T-47D	breast:	n/a	n/a
12	MAX	chr16:31147086-31147288	K562	blood:	n/a	chr16:31147104-31147114
13	SIN3A	chr16:31145441-31147413	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAZ	chr16:31146918-31147579	K562	blood:	n/a	chr16:31147104-31147114
15	CTCF	chr16:31147210-31147299	GM19239	blood:	n/a	n/a
16	BHLHE40	chr16:31146947-31147602	K562	blood:	n/a	n/a
17	MAFK	chr16:31147004-31147427	K562	blood:	n/a	n/a
18	RCOR1	chr16:31146936-31147285	K562	blood:	n/a	n/a
19	POLR2A	chr16:31147033-31147389	HepG2	liver:	n/a	n/a
20	MAX	chr16:31146970-31147523	K562	blood:	n/a	chr16:31147104-31147114
21	POLR2A	chr16:31145954-31147388	ECC-1	luminal epithelium:	n/a	n/a
22	MYC	chr16:31146969-31147370	K562	blood:	n/a	chr16:31147104-31147114
23	HMGN3	chr16:31146807-31147392	K562	blood:	n/a	n/a
24	MAX	chr16:31147092-31147429	K562	blood:	n/a	chr16:31147104-31147114
25	MYC	chr16:31147256-31147581	K562	blood:	n/a	n/a
26	MYC	chr16:31147217-31147435	MCF-7	breast:	n/a	n/a
27	POLR2A	chr16:31146755-31147289	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31144837..31147440-chr16:31190449..31192912,2	K562	blood:
2	chr16:31146560..31148604-chr16:31190124..31192018,2	K562	blood:
3	chr16:30993343..30997625-chr16:31144805..31148510,3	MCF-7	breast:
4	chr16:31147040..31149884-chr16:31151495..31154032,4	K562	blood:
5	chr16:31144485..31148429-chr16:31189146..31193121,7	MCF-7	breast:
6	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
7	chr16:31139340..31148115-chr16:31189133..31193213,16	MCF-7	breast:
8	chr16:31118494..31122515-chr16:31143591..31148259,6	MCF-7	breast:
9	chr16:31146490..31149050-chr16:31153299..31154926,2	K562	blood:
10	chr16:31147095..31148006-chr16:31190243..31191178,2	MCF-7	breast:
11	chr16:31145063..31147795-chr16:31225870..31228416,3	MCF-7	breast:
12	chr16:31083950..31086664-chr16:31145533..31147488,3	MCF-7	breast:

No data

Variant related genes	Relation type
PRSS8	TF binding region
ENSG00000167395	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000167394	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11649030	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17708472	0.81[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs17855606	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17880887	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2054214	1.00[LWK][hapmap]
rs4404083	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45619735	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56388508	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56404782	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72785546	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785547	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72785553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046978	1.00[YRI][hapmap]
rs9927295	0.92[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
13	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11645814	STX1B	cis	parietal	SCAN
rs11645814	ZNF668	cis	cerebellum	SCAN
rs11645814	YPEL3	cis	cerebellum	SCAN
rs11645814	ZNF646	cis	multi-tissue	Pritchard
rs11645814	STX1B	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31130400-31153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:31135800-31153000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:31139400-31153200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:31140400-31152800	Weak transcription	GM12878-XiMat	blood
5	chr16:31141400-31149600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:31141400-31149800	Weak transcription	HSMMtube	muscle
7	chr16:31141800-31149800	Weak transcription	HSMM	muscle
8	chr16:31142200-31153200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:31142800-31150200	Weak transcription	Psoas Muscle	Psoas
10	chr16:31143000-31153200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:31143400-31150200	Weak transcription	Aorta	Aorta
12	chr16:31143600-31150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:31143600-31153200	Weak transcription	Primary T cells from cord blood	blood
14	chr16:31143800-31149800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:31143800-31153000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr16:31143800-31153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:31144000-31152800	Weak transcription	Ovary	ovary
18	chr16:31144000-31153200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:31144200-31152400	Weak transcription	Dnd41	blood
20	chr16:31144200-31153000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:31144400-31153000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:31144400-31153000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr16:31144600-31152400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:31144600-31152600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:31144800-31152800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:31144800-31152800	Weak transcription	Thymus	Thymus
27	chr16:31144800-31153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr16:31144800-31153600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:31145000-31147400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:31145000-31147400	Enhancers	Fetal Heart	heart
31	chr16:31145000-31147400	Active TSS	Rectal Smooth Muscle	rectum
32	chr16:31145200-31147400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr16:31145200-31147400	Active TSS	Fetal Thymus	thymus
34	chr16:31145200-31147600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:31145200-31152800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr16:31145600-31147400	Flanking Active TSS	K562	blood
37	chr16:31145600-31147600	Active TSS	Fetal Kidney	kidney
38	chr16:31145800-31147600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr16:31145800-31149800	Weak transcription	Spleen	Spleen
40	chr16:31145800-31152000	Weak transcription	NHLF	lung
41	chr16:31145800-31153000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:31146000-31147400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:31146000-31147400	Enhancers	A549	lung
44	chr16:31146000-31147400	Enhancers	Hela-S3	cervix
45	chr16:31146400-31147600	Enhancers	Fetal Lung	lung
46	chr16:31146400-31147600	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr16:31146400-31147800	Bivalent Enhancer	Brain Germinal Matrix	brain
48	chr16:31146400-31149600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:31146400-31149600	Weak transcription	Left Ventricle	heart
50	chr16:31146400-31149600	Weak transcription	Right Atrium	heart

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