Variant report

Variant	rs74015012
Chromosome Location	chr16:30582213-30582214
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	REST	chr16:30581911-30582555	MCF-7	breast:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
2	REST	chr16:30582086-30582219	SK-N-SH	brain:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
3	REST	chr16:30581869-30583917	H1-neurons	neurons:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30583004-30583014 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
4	REST	chr16:30582059-30582448	H1-hESC	embryonic stem cell:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
5	REST	chr16:30582033-30582430	HepG2	liver:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
6	REST	chr16:30581942-30582558	ECC-1	luminal epithelium:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
7	REST	chr16:30581991-30582314	A549	lung:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
8	POLR2A	chr16:30582144-30583949	U87	brain:	n/a	n/a
9	REST	chr16:30581963-30582552	ECC-1	luminal epithelium:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
10	REST	chr16:30582097-30582225	PFSK-1	brain:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
11	YY1	chr16:30582185-30583861	HepG2	liver:	n/a	chr16:30583216-30583228 chr16:30583271-30583293 chr16:30583213-30583229 chr16:30583218-30583228 chr16:30583212-30583229 chr16:30583260-30583270 chr16:30583206-30583228
12	REST	chr16:30581961-30582360	HL-60	blood:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
13	MXI1	chr16:30581577-30584188	SK-N-SH	brain:	n/a	n/a
14	REST	chr16:30581971-30582549	HepG2	liver:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
15	REST	chr16:30581959-30582830	H1-hESC	embryonic stem cell:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
16	REST	chr16:30581963-30582431	PANC-1	pancreas:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
17	REST	chr16:30582070-30582245	HepG2	liver:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
18	MXI1	chr16:30582063-30584101	IMR90	lung:	n/a	n/a
19	REST	chr16:30582081-30582552	PANC-1	pancreas:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
20	PML	chr16:30582206-30583970	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:30581824-30583952	MCF10A-Er-Src	breast:	n/a	n/a
22	REST	chr16:30582012-30582353	Hela-S3	cervix:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
23	REST	chr16:30582082-30582292	PFSK-1	brain:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
24	TEAD4	chr16:30582059-30582427	A549	lung:	n/a	n/a
25	SIN3AK20	chr16:30582135-30584163	MCF-7	breast:	n/a	n/a
26	POLR2A	chr16:30582192-30583703	H1-neurons	neurons:	n/a	n/a
27	REST	chr16:30581922-30582537	GM12878	blood:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
28	REST	chr16:30582061-30582354	Hela-S3	cervix:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
29	POLR2A	chr16:30582197-30583947	HUVEC	blood vessel:	n/a	n/a
30	REST	chr16:30582075-30582223	HepG2	liver:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
31	REST	chr16:30582092-30582231	U87	brain:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
32	REST	chr16:30582065-30582324	GM12878	blood:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
33	POLR2A	chr16:30582179-30583944	HepG2	liver:	n/a	n/a
34	REST	chr16:30581918-30582688	HL-60	blood:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
35	REST	chr16:30582071-30582230	GM12878	blood:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
36	ZC3H11A	chr16:30581874-30582224	K562	blood:	n/a	n/a
37	REST	chr16:30582081-30582259	PANC-1	pancreas:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
38	REST	chr16:30582014-30582300	K562	blood:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
39	REST	chr16:30582098-30582236	PANC-1	pancreas:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
40	REST	chr16:30581943-30582507	SK-N-SH	brain:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
41	SIN3A	chr16:30582037-30583897	H1-hESC	embryonic stem cell:	n/a	chr16:30582165-30582179
42	REST	chr16:30581997-30582532	PANC-1	pancreas:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
43	POLR2A	chr16:30582111-30583908	H1-hESC	embryonic stem cell:	n/a	n/a
44	ELF1	chr16:30582165-30583891	GM12878	blood:	n/a	n/a
45	POLR2A	chr16:30582092-30583920	GM12878	blood:	n/a	n/a
46	REST	chr16:30581955-30582575	PFSK-1	brain:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
47	REST	chr16:30582087-30582250	GM12878	blood:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
48	REST	chr16:30582047-30582341	SK-N-SH	brain:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
49	REST	chr16:30582073-30582761	MCF-7	breast:	n/a	chr16:30582161-30582179 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582160-30582180 chr16:30582166-30582180
50	POLR2A	chr16:30582144-30583955	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30566138..30571776-chr16:30580042..30586389,14	K562	blood:
2	chr16:30440539..30442949-chr16:30581315..30583780,2	K562	blood:
3	chr16:30456979..30458804-chr16:30581451..30583871,2	K562	blood:
4	chr16:30581816..30584865-chr16:30620426..30623412,3	MCF-7	breast:
5	chr16:30429306..30432193-chr16:30579600..30582351,3	MCF-7	breast:
6	chr16:30581443..30584852-chr16:30667885..30670811,3	MCF-7	breast:
7	chr16:30498801..30500352-chr16:30581866..30584134,2	MCF-7	breast:
8	chr16:30554253..30555888-chr16:30580934..30582636,2	K562	blood:
9	chr16:30580685..30586607-chr16:30594028..30599624,16	MCF-7	breast:
10	chr16:30567962..30575227-chr16:30576961..30586002,21	MCF-7	breast:
11	chr16:30457304..30459817-chr16:30581206..30582951,2	K562	blood:
12	chr16:30581724..30584025-chr16:30669136..30672320,3	MCF-7	breast:
13	chr16:30520336..30522151-chr16:30582062..30584438,2	MCF-7	breast:
14	chr16:30440115..30442621-chr16:30581089..30584395,3	MCF-7	breast:
15	chr16:30441006..30444833-chr16:30580955..30584682,5	MCF-7	breast:
16	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
17	chr16:30581984..30585990-chr16:30619553..30622837,7	MCF-7	breast:
18	chr16:30454042..30458733-chr16:30581507..30584845,9	MCF-7	breast:
19	chr16:30537304..30542390-chr16:30581808..30586488,7	K562	blood:
20	chr16:30578114..30586052-chr16:30592731..30598818,24	MCF-7	breast:
21	chr16:30579675..30583184-chr16:30709142..30711294,3	K562	blood:
22	chr16:30101487..30103615-chr16:30581761..30584517,2	K562	blood:
23	chr16:30580681..30582267-chr16:30587119..30588785,2	MCF-7	breast:
24	chr16:30534593..30542459-chr16:30576363..30586049,22	MCF-7	breast:
25	chr16:30581461..30583107-chr16:30594667..30597602,3	K562	blood:
26	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
27	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
28	chr16:30567520..30571513-chr16:30580042..30586732,13	K562	blood:
29	chr16:30581261..30583067-chr16:30670889..30672636,2	K562	blood:
30	chr16:30567563..30571772-chr16:30581766..30584287,7	MCF-7	breast:
31	chr16:30455448..30458811-chr16:30580514..30583212,3	MCF-7	breast:
32	chr16:30535183..30540797-chr16:30579748..30584975,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239791	TF binding region
ENSG00000260167	Chromatin interaction
ENSG00000005844	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000261459	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1348039	1.00[AMR][1000 genomes]
rs1470129	1.00[AMR][1000 genomes]
rs1530201	1.00[AMR][1000 genomes]
rs2919428	1.00[AMR][1000 genomes]
rs2972805	1.00[AMR][1000 genomes]
rs2972806	1.00[AMR][1000 genomes]
rs34838942	1.00[AMR][1000 genomes]
rs35590751	1.00[AMR][1000 genomes]
rs35752464	1.00[AMR][1000 genomes]
rs4889492	1.00[AMR][1000 genomes]
rs4889502	1.00[AMR][1000 genomes]
rs4889506	1.00[AMR][1000 genomes]
rs58723456	1.00[AMR][1000 genomes]
rs59474645	1.00[AMR][1000 genomes]
rs62057229	1.00[AMR][1000 genomes]
rs7188927	1.00[AMR][1000 genomes]
rs74015010	1.00[AMR][1000 genomes]
rs74015011	1.00[AMR][1000 genomes]
rs893924	1.00[AMR][1000 genomes]
rs893925	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv542899	chr16:30575260-30612385	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic 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 target site	33 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	chr16:30579400-30582400	Weak transcription	Small Intestine	intestine
2	chr16:30581600-30582400	Enhancers	Stomach Mucosa	stomach
3	chr16:30581600-30582600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:30581800-30582400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:30581800-30582400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:30581800-30582400	Enhancers	HMEC	breast
7	chr16:30581800-30582600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:30581800-30582600	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr16:30581800-30582600	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr16:30581800-30582800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr16:30581800-30582800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:30581800-30582800	Flanking Active TSS	Dnd41	blood
13	chr16:30582000-30582400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr16:30582000-30582400	Flanking Active TSS	Fetal Stomach	stomach
15	chr16:30582000-30582600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr16:30582000-30582600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:30582000-30582600	Flanking Active TSS	Thymus	Thymus
18	chr16:30582000-30582800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:30582000-30582800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr16:30582000-30583600	Active TSS	Brain Anterior Caudate	brain
21	chr16:30582000-30583600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:30582000-30583600	Active TSS	Fetal Lung	lung
23	chr16:30582000-30583800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:30582000-30584000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr16:30582000-30584000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr16:30582000-30584200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:30582000-30584800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:30582200-30582400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:30582200-30582400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr16:30582200-30582400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:30582200-30582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:30582200-30582400	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr16:30582200-30582400	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr16:30582200-30582400	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr16:30582200-30582400	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr16:30582200-30582400	Flanking Active TSS	Esophagus	oesophagus
37	chr16:30582200-30582400	Enhancers	Fetal Brain Male	brain
38	chr16:30582200-30582400	Flanking Active TSS	Fetal Brain Female	brain
39	chr16:30582200-30582400	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr16:30582200-30582400	Flanking Active TSS	Fetal Kidney	kidney
41	chr16:30582200-30582400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
42	chr16:30582200-30582400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr16:30582200-30582400	Active TSS	Right Atrium	heart
44	chr16:30582200-30582400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr16:30582200-30582400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr16:30582200-30582400	Enhancers	Spleen	Spleen
47	chr16:30582200-30582400	Flanking Active TSS	GM12878-XiMat	blood
48	chr16:30582200-30582400	Flanking Active TSS	HepG2	liver
49	chr16:30582200-30582400	Flanking Active TSS	HSMM	muscle
50	chr16:30582200-30582600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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