Variant report

Variant	rs9924515
Chromosome Location	chr16:31076302-31076303
allele	C/T
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	POLR2A	chr16:31076252-31076625	ProgFib	skin:	n/a	n/a
2	POLR2A	chr16:31076214-31076722	U87	brain:	n/a	n/a
3	GATA3	chr16:31076194-31076889	SK-N-SH	brain:	n/a	chr16:31076705-31076718
4	POLR2A	chr16:31076192-31076766	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr16:31076035-31076704	U87	brain:	n/a	n/a
6	FOSL2	chr16:31076215-31076767	SK-N-SH	brain:	n/a	chr16:31076514-31076522 chr16:31076515-31076522 chr16:31076514-31076522
7	SP1	chr16:31076234-31076655	A549	lung:	n/a	n/a
8	TEAD4	chr16:31076173-31076709	ECC-1	luminal epithelium:	n/a	n/a
9	GATA3	chr16:31076178-31076845	SK-N-SH	brain:	n/a	chr16:31076705-31076718
10	RCOR1	chr16:31076072-31076972	IMR90	lung:	n/a	n/a
11	POLR2A	chr16:31076177-31076604	IMR90	lung:	n/a	n/a
12	RAD21	chr16:31076202-31076683	IMR90	lung:	n/a	n/a
13	FOSL2	chr16:31076211-31076686	A549	lung:	n/a	chr16:31076514-31076522 chr16:31076515-31076522 chr16:31076514-31076522
14	JUND	chr16:31076083-31076769	SK-N-SH	brain:	n/a	chr16:31076514-31076522 chr16:31076515-31076522 chr16:31076514-31076522
15	FOSL2	chr16:31076212-31076743	SK-N-SH	brain:	n/a	chr16:31076514-31076522 chr16:31076515-31076522 chr16:31076514-31076522
16	SMC3	chr16:31076218-31076594	Hela-S3	cervix:	n/a	n/a
17	NFYB	chr16:31076096-31076407	GM12878	blood:	n/a	chr16:31076242-31076257 chr16:31076241-31076253 chr16:31076242-31076257

No.	Distal block	Cell Line	Cell type
1	chr16:31044379..31046301-chr16:31075916..31077490,2	MCF-7	breast:
2	chr16:31053220..31057176-chr16:31073803..31076480,4	MCF-7	breast:
3	chr16:31076020..31078080-chr16:31104345..31106297,2	MCF-7	breast:
4	chr16:31076302..31081402-chr16:31082512..31087316,9	K562	blood:
5	chr16:31043007..31053782-chr16:31072765..31087431,40	MCF-7	breast:
6	chr16:31072102..31073706-chr16:31075876..31078559,2	MCF-7	breast:

Variant related genes	Relation type
ZNF668	TF binding region
ENSG00000261124	TF binding region
ENSG00000255439	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000232748	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000260911	Chromatin interaction
ENSG00000167394	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13337470	0.82[AFR][1000 genomes]
rs28566553	0.82[AFR][1000 genomes]
rs8053474	0.82[AFR][1000 genomes]
rs9889109	1.00[AFR][1000 genomes]
rs9924358	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription 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	109 gene(s)	inside rSNPs	diseases
12	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
13	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
14	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31046000-31083200	Weak transcription	Right Atrium	heart
2	chr16:31051400-31083000	Weak transcription	Fetal Lung	lung
3	chr16:31052000-31083400	Weak transcription	Primary B cells from cord blood	blood
4	chr16:31054000-31083200	Weak transcription	Fetal Kidney	kidney
5	chr16:31070400-31082600	Weak transcription	Fetal Brain Male	brain
6	chr16:31071000-31076400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:31071000-31076800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:31071200-31076600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:31071800-31076600	Strong transcription	Brain Germinal Matrix	brain
10	chr16:31072000-31076600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:31072800-31076400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr16:31073200-31076800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr16:31073600-31076600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:31073600-31082800	Weak transcription	HepG2	liver
15	chr16:31073600-31083000	Weak transcription	Small Intestine	intestine
16	chr16:31073600-31083200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:31073600-31083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:31073600-31083200	Weak transcription	Brain Substantia Nigra	brain
19	chr16:31073800-31083400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr16:31074200-31076800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr16:31074400-31076600	Enhancers	Primary hematopoietic stem cells	blood
22	chr16:31074400-31078000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:31074600-31076400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr16:31075000-31076400	Genic enhancers	Spleen	Spleen
25	chr16:31075000-31077000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:31075000-31077400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr16:31075200-31076400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:31075200-31076600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:31075200-31076800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:31075400-31076400	Flanking Active TSS	HSMMtube	muscle
31	chr16:31075400-31076800	Enhancers	HUVEC	blood vessel
32	chr16:31075400-31077000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:31075400-31077200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr16:31075400-31077400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr16:31075400-31077400	Enhancers	HMEC	breast
36	chr16:31075400-31078400	Enhancers	Fetal Muscle Trunk	muscle
37	chr16:31075400-31084000	Weak transcription	Ovary	ovary
38	chr16:31075600-31076600	Weak transcription	Colonic Mucosa	Colon
39	chr16:31075600-31076800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr16:31075600-31076800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:31075600-31076800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr16:31075600-31076800	Enhancers	Left Ventricle	heart
43	chr16:31075600-31076800	Enhancers	Psoas Muscle	Psoas
44	chr16:31075600-31076800	Enhancers	Right Ventricle	heart
45	chr16:31075600-31077000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:31075600-31082800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:31075600-31083000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:31075600-31083000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr16:31075600-31083000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr16:31075600-31083000	Weak transcription	Brain Angular Gyrus	brain

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