Variant report

Variant	rs2972810
Chromosome Location	chr16:30670887-30670888
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	MAX	chr16:30668608-30671540	K562	blood:	n/a	chr16:30670803-30670813 chr16:30670487-30670497 chr16:30669313-30669322
2	POLR2A	chr16:30668902-30670927	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr16:30668948-30671717	GM18951	blood:	n/a	n/a
4	POLR2A	chr16:30668093-30671519	PANC-1	pancreas:	n/a	n/a
5	HDAC2	chr16:30670333-30670985	HepG2	liver:	n/a	n/a
6	HMGN3	chr16:30670422-30671446	K562	blood:	n/a	n/a
7	POLR2A	chr16:30668870-30671538	MCF-7	breast:	n/a	n/a
8	POLR2A	chr16:30668961-30671625	ProgFib	skin:	n/a	n/a
9	MAX	chr16:30668902-30670907	MCF-7	breast:	n/a	chr16:30670803-30670813 chr16:30670487-30670497 chr16:30669313-30669322
10	POLR2A	chr16:30668652-30670941	K562	blood:	n/a	n/a
11	POLR2A	chr16:30670487-30670912	K562	blood:	n/a	n/a
12	POLR2A	chr16:30668555-30671681	HUVEC	blood vessel:	n/a	n/a
13	SIN3A	chr16:30668967-30670905	GM12878	blood:	n/a	chr16:30670064-30670077 chr16:30670546-30670555
14	POLR2A	chr16:30668573-30670993	GM12891	blood:	n/a	n/a
15	RAD21	chr16:30668735-30671034	SK-N-SH	brain:	n/a	chr16:30670623-30670633 chr16:30670732-30670741 chr16:30669221-30669235
16	POLR2A	chr16:30670249-30671341	A549	lung:	n/a	n/a
17	MAZ	chr16:30669138-30670909	GM12878	blood:	n/a	chr16:30670803-30670813 chr16:30670487-30670497 chr16:30669313-30669322
18	YY1	chr16:30668751-30671388	HepG2	liver:	n/a	chr16:30669304-30669318 chr16:30670751-30670765 chr16:30669221-30669235 chr16:30669304-30669313 chr16:30670800-30670814 chr16:30670969-30670989 chr16:30669348-30669362 chr16:30670802-30670811 chr16:30669306-30669315 chr16:30669227-30669241 chr16:30669298-30669312
19	POLR2A	chr16:30668953-30670890	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:30668695-30671796	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr16:30668106-30672800	GM12892	blood:	n/a	n/a
22	CCNT2	chr16:30670397-30671094	K562	blood:	n/a	n/a
23	CTCF	chr16:30668199-30671058	SK-N-SH	brain:	n/a	chr16:30670620-30670633
24	PAX5	chr16:30670425-30671042	GM12892	blood:	n/a	n/a
25	MXI1	chr16:30668781-30670923	GM12878	blood:	n/a	chr16:30668891-30668906
26	MAZ	chr16:30669071-30671312	K562	blood:	n/a	chr16:30670803-30670813 chr16:30670487-30670497 chr16:30669313-30669322
27	CTCF	chr16:30670794-30670981	K562	blood:	n/a	n/a
28	CREB1	chr16:30668817-30670931	HepG2	liver:	n/a	n/a
29	YY1	chr16:30668715-30671489	GM12892	blood:	n/a	chr16:30669304-30669318 chr16:30670751-30670765 chr16:30669221-30669235 chr16:30669304-30669313 chr16:30670800-30670814 chr16:30670969-30670989 chr16:30669348-30669362 chr16:30670802-30670811 chr16:30669306-30669315 chr16:30669227-30669241 chr16:30669298-30669312
30	YY1	chr16:30668666-30670963	GM12878	blood:	n/a	chr16:30669304-30669318 chr16:30670751-30670765 chr16:30669221-30669235 chr16:30669304-30669313 chr16:30670800-30670814 chr16:30669348-30669362 chr16:30670802-30670811 chr16:30669306-30669315 chr16:30669227-30669241 chr16:30669298-30669312
31	POLR2A	chr16:30669009-30671671	GM18526	blood:	n/a	n/a
32	TFAP2C	chr16:30669125-30671082	Hela-S3	cervix:	n/a	chr16:30669440-30669455 chr16:30670677-30670692
33	POLR2A	chr16:30667975-30671753	K562	blood:	n/a	n/a
34	POLR2A	chr16:30668899-30671768	GM12878	blood:	n/a	n/a
35	POLR2A	chr16:30668198-30673294	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:30668855-30671397	Hela-S3	cervix:	n/a	n/a
37	SIN3AK20	chr16:30670245-30670944	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:30668247-30670906	GM12892	blood:	n/a	n/a
39	CTCF	chr16:30670760-30670910	GM12875	blood:	n/a	n/a
40	SIN3AK20	chr16:30670323-30670937	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr16:30668645-30671634	MCF-7	breast:	n/a	n/a
42	POLR2A	chr16:30668977-30671756	GM12892	blood:	n/a	n/a
43	SMARCB1	chr16:30668918-30671499	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr16:30668561-30670937	PANC-1	pancreas:	n/a	n/a
45	ELF1	chr16:30670429-30670890	K562	blood:	n/a	chr16:30670804-30670816 chr16:30670614-30670626
46	SIN3AK20	chr16:30670399-30671244	K562	blood:	n/a	n/a
47	ELF1	chr16:30669081-30670942	HepG2	liver:	n/a	chr16:30670804-30670816 chr16:30670067-30670079 chr16:30669923-30669936 chr16:30670614-30670626
48	POLR2A	chr16:30670437-30670893	A549	lung:	n/a	n/a
49	CTCF	chr16:30668674-30671067	A549	lung:	n/a	chr16:30670620-30670633
50	POLR2A	chr16:30668547-30670993	GM12878	blood:	n/a	n/a

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	chr16:30382922..30384905-chr16:30669904..30671484,2	MCF-7	breast:
4	chr16:30665738..30673826-chr16:30707321..30713630,33	K562	blood:
5	chr16:30620863..30623072-chr16:30670310..30671873,2	MCF-7	breast:
6	chr16:30544819..30547359-chr16:30669370..30671346,2	MCF-7	breast:
7	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
8	chr16:30669272..30672997-chr16:30933501..30936286,4	MCF-7	breast:
9	chr16:30668245..30671978-chr16:30750248..30754870,9	MCF-7	breast:
10	chr16:29815810..29818051-chr16:30669124..30671964,2	MCF-7	breast:
11	chr16:30583091..30585681-chr16:30668404..30671562,3	K562	blood:
12	chr16:30454464..30457358-chr16:30669384..30671896,3	K562	blood:
13	chr16:30669439..30671139-chr16:30758137..30761003,2	K562	blood:
14	chr16:30670863..30673913-chr16:30759873..30762559,3	MCF-7	breast:
15	chr16:30669616..30672714-chr16:30750078..30754286,5	MCF-7	breast:
16	chr16:30669453..30671146-chr16:30759344..30760999,2	MCF-7	breast:
17	chr16:30455687..30457449-chr16:30670431..30673736,3	MCF-7	breast:
18	chr16:30581724..30584025-chr16:30669136..30672320,3	MCF-7	breast:
19	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:
20	chr16:30625309..30627910-chr16:30669048..30671707,2	K562	blood:
21	chr16:30537270..30540938-chr16:30667776..30670897,3	K562	blood:
22	chr16:30626674..30628950-chr16:30669542..30671226,2	MCF-7	breast:
23	chr16:30667783..30674540-chr16:30707310..30714065,38	K562	blood:
24	chr16:30389121..30392604-chr16:30668490..30671197,4	K562	blood:
25	chr16:30670376..30671103-chr16:30704925..30705538,2	K562	blood:
26	chr16:30568254..30570090-chr16:30667629..30670948,3	K562	blood:
27	chr16:30438691..30441643-chr16:30669537..30671666,4	MCF-7	breast:
28	chr16:30455343..30457757-chr16:30668968..30672214,3	MCF-7	breast:
29	chr16:30404931..30406633-chr16:30670446..30672250,2	MCF-7	breast:
30	chr16:30535862..30538141-chr16:30667987..30671632,3	K562	blood:
31	chr16:30345814..30348548-chr16:30669791..30672071,2	MCF-7	breast:

Variant related genes	Relation type
FBRS	TF binding region
ENSG00000260899	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000260678	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000103495	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000169951	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1530203	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919427	0.80[AFR][1000 genomes]
rs2972811	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972812	1.00[AMR][1000 genomes]
rs57493067	1.00[AMR][1000 genomes]
rs57568627	1.00[AMR][1000 genomes]
rs6565198	1.00[AMR][1000 genomes]
rs73536460	1.00[AMR][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	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:126 , 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	chr16:30668800-30671000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:30668800-30671000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr16:30668800-30671200	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr16:30668800-30671400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:30668800-30671400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr16:30668800-30671400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:30668800-30671400	Active TSS	Fetal Brain Female	brain
9	chr16:30668800-30671400	Active TSS	Psoas Muscle	Psoas
10	chr16:30668800-30671800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:30668800-30672000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:30668800-30672000	Active TSS	Gastric	stomach
13	chr16:30669000-30671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr16:30669000-30671000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:30669000-30671000	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr16:30669000-30671200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr16:30669000-30671200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr16:30669000-30671200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr16:30669000-30671200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:30669000-30671200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:30669000-30671200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:30669000-30671200	Active TSS	Brain Germinal Matrix	brain
23	chr16:30669000-30671400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:30669000-30671400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:30669000-30671400	Active TSS	Brain Cingulate Gyrus	brain
26	chr16:30669000-30671400	Active TSS	Brain Hippocampus Middle	brain
27	chr16:30669000-30671600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:30669000-30671600	Active TSS	Fetal Kidney	kidney
29	chr16:30669000-30671600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr16:30669000-30671600	Active TSS	Spleen	Spleen
31	chr16:30669000-30671600	Active TSS	Osteobl	bone
32	chr16:30669000-30671800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:30669000-30671800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr16:30669000-30671800	Active TSS	Left Ventricle	heart
35	chr16:30669000-30671800	Active TSS	Rectal Smooth Muscle	rectum
36	chr16:30669000-30671800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr16:30669000-30671800	Active TSS	A549	lung
38	chr16:30669000-30671800	Active TSS	HSMMtube	muscle
39	chr16:30669000-30672000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:30669000-30672200	Active TSS	Esophagus	oesophagus
41	chr16:30669000-30672200	Active TSS	Small Intestine	intestine
42	chr16:30669200-30671000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:30669200-30671000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:30669200-30671200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr16:30669200-30671200	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr16:30669200-30671200	Active TSS	Primary B cells from cord blood	blood
47	chr16:30669200-30671200	Active TSS	Primary B cells from peripheral blood	blood
48	chr16:30669200-30671200	Active TSS	Primary T cells fromperipheralblood	blood
49	chr16:30669200-30671200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr16:30669200-30671200	Active TSS	Primary T helper cells fromperipheralblood	blood

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