Variant report

Variant	rs2602432
Chromosome Location	chr16:81070238-81070239
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	MYBL2	chr16:81070183-81070687	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:81069140-81070252	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:81069169-81070303	K562	blood:	n/a	n/a
4	POLR2A	chr16:81070181-81070648	HepG2	liver:	n/a	n/a
5	MXI1	chr16:81069906-81070276	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:81069198-81070342	Raji	blood:	n/a	n/a
7	MXI1	chr16:81069807-81070419	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr16:81068247-81070668	SK-N-SH	brain:	n/a	chr16:81069997-81070010 chr16:81069952-81069965 chr16:81069291-81069307 chr16:81069272-81069280
9	RCOR1	chr16:81069985-81070372	Hela-S3	cervix:	n/a	n/a
10	THAP1	chr16:81069905-81070239	K562	blood:	n/a	n/a
11	CEBPB	chr16:81069945-81070447	MCF-7	breast:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
12	POLR2A	chr16:81068857-81071180	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr16:81070200-81070796	MCF10A-Er-Src	breast:	n/a	n/a
14	HCFC1	chr16:81068860-81070884	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr16:81069096-81070711	MCF10A-Er-Src	breast:	n/a	n/a
16	MAZ	chr16:81068773-81070314	IMR90	lung:	n/a	n/a
17	POLR2A	chr16:81069248-81070708	Hela-S3	cervix:	n/a	n/a
18	GTF2F1	chr16:81070237-81070256	H1-hESC	embryonic stem cell:	n/a	n/a
19	HA-E2F1	chr16:81069726-81070368	MCF-7	breast:	n/a	chr16:81069982-81069992 chr16:81069870-81069879 chr16:81069866-81069876 chr16:81069867-81069877
20	ZNF384	chr16:81070062-81070604	K562	blood:	n/a	n/a
21	MAX	chr16:81069600-81070505	MCF-7	breast:	n/a	n/a
22	EBF1	chr16:81070122-81070366	GM12878	blood:	n/a	n/a
23	CEBPB	chr16:81069920-81070447	A549	lung:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
24	CTCF	chr16:81070100-81070250	SK-N-SH_RA	brain:	n/a	n/a
25	ZC3H11A	chr16:81070122-81070297	K562	blood:	n/a	n/a
26	SIN3A	chr16:81069038-81070312	H1-hESC	embryonic stem cell:	n/a	chr16:81069911-81069922
27	CEBPB	chr16:81070006-81070438	K562	blood:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
28	YY1	chr16:81069041-81070370	HepG2	liver:	n/a	chr16:81069918-81069932 chr16:81069863-81069877
29	TEAD4	chr16:81070171-81071061	K562	blood:	n/a	n/a
30	CEBPB	chr16:81070014-81070377	IMR90	lung:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
31	CEBPB	chr16:81070008-81071044	K562	blood:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
32	MAX	chr16:81068982-81070527	HepG2	liver:	n/a	n/a
33	MXI1	chr16:81069146-81070581	IMR90	lung:	n/a	n/a
34	MAX	chr16:81069165-81070410	Hela-S3	cervix:	n/a	n/a
35	UBTF	chr16:81069196-81070251	K562	blood:	n/a	n/a
36	POLR2A	chr16:81069123-81070621	HepG2	liver:	n/a	n/a
37	CEBPB	chr16:81070098-81070372	A549	lung:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
38	SMC3	chr16:81068815-81070491	SK-N-SH	brain:	n/a	n/a
39	MAX	chr16:81069119-81070384	K562	blood:	n/a	n/a
40	CHD1	chr16:81069681-81070304	H1-hESC	embryonic stem cell:	n/a	chr16:81070007-81070017
41	POLR2A	chr16:81069188-81070382	Hela-S3	cervix:	n/a	n/a
42	ESRRA	chr16:81068955-81070833	GM12878	blood:	n/a	n/a
43	MXI1	chr16:81068735-81071186	SK-N-SH	brain:	n/a	n/a
44	CEBPB	chr16:81070047-81070338	HepG2	liver:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
45	CEBPB	chr16:81069788-81070933	Hela-S3	cervix:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
46	REST	chr16:81068973-81070723	H1-neurons	neurons:	n/a	chr16:81069913-81069931 chr16:81069933-81069946
47	CTCF	chr16:81068844-81070964	A549	lung:	n/a	chr16:81069997-81070010 chr16:81069952-81069965 chr16:81069291-81069307 chr16:81069272-81069280
48	YY1	chr16:81069184-81070238	GM12878	blood:	n/a	chr16:81069918-81069932 chr16:81069863-81069877

No.	Distal block	Cell Line	Cell type
1	chr16:81068890..81071040-chr16:81770218..81773249,4	MCF-7	breast:
2	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
3	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:
4	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
5	chr16:81061882..81066764-chr16:81067446..81071538,9	MCF-7	breast:
6	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
7	chr16:81069395..81071569-chr16:81120451..81122846,2	K562	blood:
8	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
9	chr16:81068207..81071925-chr16:81073357..81079831,13	MCF-7	breast:
10	chr16:81056423..81058180-chr16:81069392..81072113,2	MCF-7	breast:
11	chr16:81052685..81055352-chr16:81069386..81070952,2	MCF-7	breast:
12	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
13	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
14	chr16:81051240..81053871-chr16:81067800..81070435,3	K562	blood:
15	chr16:81069108..81070906-chr16:81231938..81234335,3	MCF-7	breast:
16	chr16:81056962..81059865-chr16:81068197..81070898,3	K562	blood:
17	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
18	chr16:81068545..81070561-chr16:81128158..81130238,2	K562	blood:
19	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
20	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
21	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
22	chr16:81068545..81070466-chr16:81128738..81130368,2	K562	blood:

Variant related genes	Relation type
ATMIN	TF binding region
ENSG00000260213	TF binding region
ENSG00000103121	Chromatin interaction
ENSG00000197943	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000261218	Chromatin interaction
ENSG00000261061	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000260643	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000166473	Chromatin interaction
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1563076	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2549889	0.84[AFR][1000 genomes]
rs2549890	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2549894	1.00[AMR][1000 genomes]
rs2602451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2602454	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889232	1.00[AMR][1000 genomes]
rs5023851	1.00[AMR][1000 genomes]
rs6420420	1.00[AMR][1000 genomes]
rs7187102	1.00[AMR][1000 genomes]
rs7196170	1.00[AMR][1000 genomes]
rs804888	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804898	1.00[AMR][1000 genomes]
rs804901	1.00[AMR][1000 genomes]
rs8049509	0.84[AFR][1000 genomes]
rs8177931	1.00[AMR][1000 genomes]
rs935945	1.00[AFR][1000 genomes];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	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv995083	chr16:81050917-81076406	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	esv3374530	chr16:81068676-81071224	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv1820959	chr16:81069247-81070697	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81068800-81070400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr16:81068800-81070400	Active TSS	Brain Hippocampus Middle	brain
3	chr16:81068800-81071200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:81069000-81070400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:81069000-81070400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr16:81069000-81070400	Active TSS	Brain Germinal Matrix	brain
7	chr16:81069000-81070400	Active TSS	Fetal Kidney	kidney
8	chr16:81069000-81070600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr16:81069000-81070600	Active TSS	Fetal Muscle Trunk	muscle
10	chr16:81069000-81070800	Active TSS	Psoas Muscle	Psoas
11	chr16:81069200-81070400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr16:81069200-81070400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr16:81069200-81070400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr16:81069200-81070400	Active TSS	Muscle Satellite Cultured Cells	--
15	chr16:81069200-81070400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:81069200-81070400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:81069200-81070400	Active TSS	Brain Angular Gyrus	brain
18	chr16:81069200-81070400	Active TSS	Brain Anterior Caudate	brain
19	chr16:81069200-81070400	Active TSS	Brain Cingulate Gyrus	brain
20	chr16:81069200-81070400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr16:81069200-81070400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:81069200-81070400	Active TSS	Colon Smooth Muscle	Colon
23	chr16:81069200-81070400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr16:81069200-81070400	Active TSS	Esophagus	oesophagus
25	chr16:81069200-81070400	Active TSS	Fetal Intestine Large	intestine
26	chr16:81069200-81070400	Active TSS	Pancreas	Pancrea
27	chr16:81069200-81070400	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr16:81069200-81070400	Active TSS	A549	lung
29	chr16:81069200-81070400	Active TSS	HMEC	breast
30	chr16:81069200-81070400	Active TSS	NHLF	lung
31	chr16:81069200-81070600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr16:81069200-81070600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr16:81069200-81070600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:81069200-81070600	Active TSS	Right Atrium	heart
35	chr16:81069200-81070600	Active TSS	HSMM	muscle
36	chr16:81069200-81070800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr16:81069200-81070800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:81069200-81071000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr16:81069200-81071000	Active TSS	Colonic Mucosa	Colon
40	chr16:81069400-81070400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:81069400-81070400	Active TSS	Ovary	ovary
42	chr16:81069400-81070400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr16:81069400-81070400	Active TSS	Stomach Smooth Muscle	stomach
44	chr16:81069400-81070600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:81069400-81070600	Active TSS	Lung	lung
46	chr16:81069400-81070800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:81069400-81070800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:81069400-81070800	Active TSS	Left Ventricle	heart
49	chr16:81069400-81071000	Active TSS	Right Ventricle	heart
50	chr16:81069600-81070400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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