Variant report

Variant	rs542529951
Chromosome Location	chr16:30671561-30671562
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	chr16:30671057-30673269	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:30668948-30671717	GM18951	blood:	n/a	n/a
3	POLR2A	chr16:30671029-30671731	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:30668961-30671625	ProgFib	skin:	n/a	n/a
5	MAZ	chr16:30671146-30671592	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr16:30668555-30671681	HUVEC	blood vessel:	n/a	n/a
7	RELA	chr16:30671084-30672399	GM15510	blood:	n/a	chr16:30671327-30671336 chr16:30671327-30671336
8	POLR2A	chr16:30671007-30671746	U87	brain:	n/a	n/a
9	EBF1	chr16:30671174-30672351	GM12878	blood:	n/a	chr16:30671470-30671480 chr16:30671470-30671479 chr16:30671469-30671480
10	ZNF263	chr16:30670932-30671621	K562	blood:	n/a	chr16:30671222-30671243 chr16:30671569-30671578 chr16:30671451-30671460
11	POLR2A	chr16:30668695-30671796	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr16:30668106-30672800	GM12892	blood:	n/a	n/a
13	POLR2A	chr16:30671116-30672496	GM12891	blood:	n/a	n/a
14	MTA3	chr16:30671110-30671718	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:30669009-30671671	GM18526	blood:	n/a	n/a
16	POLR2A	chr16:30671095-30671614	U87	brain:	n/a	n/a
17	POLR2A	chr16:30667975-30671753	K562	blood:	n/a	n/a
18	POLR2A	chr16:30668899-30671768	GM12878	blood:	n/a	n/a
19	POLR2A	chr16:30670978-30671923	U87	brain:	n/a	n/a
20	POLR2A	chr16:30668198-30673294	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:30670953-30671679	GM12891	blood:	n/a	n/a
22	POLR2A	chr16:30671062-30671679	GM12891	blood:	n/a	n/a
23	RELA	chr16:30671092-30672581	GM12891	blood:	n/a	chr16:30671327-30671336 chr16:30671327-30671336
24	POLR2A	chr16:30668645-30671634	MCF-7	breast:	n/a	n/a
25	POLR2A	chr16:30670984-30671822	U87	brain:	n/a	n/a
26	POLR2A	chr16:30668977-30671756	GM12892	blood:	n/a	n/a
27	POLR2A	chr16:30671396-30671724	SK-N-SH	brain:	n/a	n/a
28	EBF1	chr16:30671161-30671853	GM12878	blood:	n/a	chr16:30671470-30671480 chr16:30671470-30671479 chr16:30671469-30671480
29	EBF1	chr16:30671079-30671918	GM12878	blood:	n/a	chr16:30671470-30671480 chr16:30671470-30671479 chr16:30671469-30671480
30	BCLAF1	chr16:30670915-30671739	GM12878	blood:	n/a	n/a
31	NFIC	chr16:30671222-30672417	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:30670859-30672818	GM12892	blood:	n/a	n/a
33	POLR2A	chr16:30668630-30671685	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr16:30671034-30671745	GM12892	blood:	n/a	n/a
35	POLR2A	chr16:30668907-30671703	GM19193	blood:	n/a	n/a
36	POLR2A	chr16:30668952-30671717	Raji	blood:	n/a	n/a
37	RELA	chr16:30671148-30672680	GM19193	blood:	n/a	chr16:30671327-30671336 chr16:30671327-30671336
38	TAF1	chr16:30671293-30671728	GM12878	blood:	n/a	n/a
39	POLR2A	chr16:30668965-30671715	HCT-116	colon:	n/a	n/a
40	MAZ	chr16:30668538-30672392	IMR90	lung:	n/a	chr16:30670803-30670813 chr16:30670487-30670497 chr16:30669313-30669322
41	POLR2A	chr16:30668566-30671961	GM12878	blood:	n/a	n/a
42	POLR2A	chr16:30668549-30671672	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr16:30668601-30671762	K562	blood:	n/a	n/a
44	ZNF263	chr16:30668945-30672012	HEK293-T-REx	kidney:	n/a	chr16:30671222-30671243 chr16:30671569-30671578 chr16:30671451-30671460 chr16:30670228-30670237
45	POLR2A	chr16:30668972-30671638	GM19099	blood:	n/a	n/a
46	ZBTB7A	chr16:30670980-30671836	ECC-1	luminal epithelium:	n/a	chr16:30671376-30671390
47	ZNF143	chr16:30671502-30671721	GM12878	blood:	n/a	n/a
48	HCFC1	chr16:30668484-30672437	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr16:30671560-30671710	AG04449	skin:	n/a	n/a
50	ELF1	chr16:30668897-30671766	GM12878	blood:	n/a	chr16:30670804-30670816 chr16:30670067-30670079 chr16:30669923-30669936 chr16:30670614-30670626

No.	Distal block	Cell Line	Cell type
1	chr16:30669436..30672389-chr17:73774530..73776217,2	MCF-7	breast:
2	chr16:30534881..30538738-chr16:30669014..30672874,5	MCF-7	breast:
3	chr16:30665738..30673826-chr16:30707321..30713630,33	K562	blood:
4	chr16:30581261..30583067-chr16:30670889..30672636,2	K562	blood:
5	chr16:30620863..30623072-chr16:30670310..30671873,2	MCF-7	breast:
6	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
7	chr16:30669272..30672997-chr16:30933501..30936286,4	MCF-7	breast:
8	chr16:30668245..30671978-chr16:30750248..30754870,9	MCF-7	breast:
9	chr16:29815810..29818051-chr16:30669124..30671964,2	MCF-7	breast:
10	chr16:30583091..30585681-chr16:30668404..30671562,3	K562	blood:
11	chr16:30454464..30457358-chr16:30669384..30671896,3	K562	blood:
12	chr16:30671278..30673717-chr16:30785023..30788710,4	MCF-7	breast:
13	chr16:30670863..30673913-chr16:30759873..30762559,3	MCF-7	breast:
14	chr16:30669616..30672714-chr16:30750078..30754286,5	MCF-7	breast:
15	chr16:30455687..30457449-chr16:30670431..30673736,3	MCF-7	breast:
16	chr16:30581724..30584025-chr16:30669136..30672320,3	MCF-7	breast:
17	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:
18	chr16:30671487..30673418-chr16:30969039..30970586,2	K562	blood:
19	chr16:30625309..30627910-chr16:30669048..30671707,2	K562	blood:
20	chr16:30667783..30674540-chr16:30707310..30714065,38	K562	blood:
21	chr16:30670901..30672764-chr20:45946982..45948705,2	MCF-7	breast:
22	chr16:30670913..30673780-chr16:30684113..30687198,4	MCF-7	breast:
23	chr16:30438691..30441643-chr16:30669537..30671666,4	MCF-7	breast:
24	chr16:30455343..30457757-chr16:30668968..30672214,3	MCF-7	breast:
25	chr16:30404931..30406633-chr16:30670446..30672250,2	MCF-7	breast:
26	chr16:30635973..30637940-chr16:30671557..30674235,2	MCF-7	breast:
27	chr16:30535862..30538141-chr16:30667987..30671632,3	K562	blood:
28	chr16:30345814..30348548-chr16:30669791..30672071,2	MCF-7	breast:

Variant related genes	Relation type
FBRS	TF binding region
ENSG00000080603	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000261680	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000260678	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000267882	Chromatin interaction
ENSG00000103495	Chromatin interaction
ENSG00000252074	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000261840	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
7	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
8	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription 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	171 gene(s)	inside rSNPs	diseases
9	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
10	nsv905730	chr16:30667031-30681816	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv905731	chr16:30667031-30685089	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
13	esv3506214	chr16:30670001-30672099	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	diseases
14	esv3506215	chr16:30670001-30672099	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30668600-30672800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:30668800-30671800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:30668800-30672000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:30668800-30672000	Active TSS	Gastric	stomach
5	chr16:30669000-30671600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:30669000-30671600	Active TSS	Fetal Kidney	kidney
7	chr16:30669000-30671600	Active TSS	Placenta Amnion	Placenta Amnion
8	chr16:30669000-30671600	Active TSS	Spleen	Spleen
9	chr16:30669000-30671600	Active TSS	Osteobl	bone
10	chr16:30669000-30671800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:30669000-30671800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr16:30669000-30671800	Active TSS	Left Ventricle	heart
13	chr16:30669000-30671800	Active TSS	Rectal Smooth Muscle	rectum
14	chr16:30669000-30671800	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr16:30669000-30671800	Active TSS	A549	lung
16	chr16:30669000-30671800	Active TSS	HSMMtube	muscle
17	chr16:30669000-30672000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:30669000-30672200	Active TSS	Esophagus	oesophagus
19	chr16:30669000-30672200	Active TSS	Small Intestine	intestine
20	chr16:30669200-30671600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:30669200-30671600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:30669200-30671600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:30669200-30671600	Active TSS	Primary T cells from cord blood	blood
24	chr16:30669200-30671600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr16:30669200-30671600	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr16:30669200-30671600	Active TSS	Brain Angular Gyrus	brain
27	chr16:30669200-30671600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr16:30669200-30671600	Active TSS	Brain Substantia Nigra	brain
29	chr16:30669200-30671600	Active TSS	Colon Smooth Muscle	Colon
30	chr16:30669200-30671600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr16:30669200-30671600	Active TSS	Fetal Intestine Large	intestine
32	chr16:30669200-30671600	Active TSS	Placenta	Placenta
33	chr16:30669200-30671600	Active TSS	Pancreas	Pancrea
34	chr16:30669200-30671600	Active TSS	Right Ventricle	heart
35	chr16:30669200-30671600	Active TSS	Hela-S3	cervix
36	chr16:30669200-30671800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:30669200-30671800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:30669200-30671800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr16:30669200-30671800	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr16:30669200-30671800	Active TSS	Muscle Satellite Cultured Cells	--
41	chr16:30669200-30671800	Active TSS	Brain Anterior Caudate	brain
42	chr16:30669200-30671800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:30669200-30671800	Active TSS	Thymus	Thymus
44	chr16:30669200-30671800	Active TSS	HMEC	breast
45	chr16:30669200-30671800	Active TSS	HSMM	muscle
46	chr16:30669200-30671800	Active TSS	NH-A	brain
47	chr16:30669200-30671800	Active TSS	NHEK	skin
48	chr16:30669200-30671800	Active TSS	NHLF	lung
49	chr16:30669200-30672000	Active TSS	NHDF-Ad	bronchial
50	chr16:30669200-30672200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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