Variant report

Variant	rs16975847
Chromosome Location	chr16:75589590-75589591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:122)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr16:75589192-75590400	K562	blood:	n/a	n/a
2	POLR2A	chr16:75589077-75590427	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:75589017-75590511	GM12892	blood:	n/a	n/a
4	MAX	chr16:75588976-75590454	ECC-1	luminal epithelium:	n/a	chr16:75590241-75590251
5	POLR2A	chr16:75589081-75590560	HUVEC	blood vessel:	n/a	n/a
6	E2F6	chr16:75589114-75590503	A549	lung:	n/a	chr16:75590246-75590255 chr16:75589684-75589695
7	PAX5	chr16:75589562-75589994	GM12878	blood:	n/a	n/a
8	CREB1	chr16:75588978-75590448	H1-hESC	embryonic stem cell:	n/a	n/a
9	HA-E2F1	chr16:75588958-75590570	MCF-7	breast:	n/a	chr16:75590246-75590255
10	RFX5	chr16:75588834-75590651	IMR90	lung:	n/a	chr16:75590176-75590191 chr16:75590176-75590191 chr16:75589225-75589234 chr16:75590176-75590191 chr16:75590178-75590193
11	TCF12	chr16:75588970-75589971	A549	lung:	n/a	n/a
12	MYC	chr16:75589016-75590499	K562	blood:	n/a	chr16:75590241-75590251
13	YY1	chr16:75589114-75589593	GM12891	blood:	n/a	n/a
14	POLR2A	chr16:75589131-75590518	GM18505	blood:	n/a	n/a
15	STAT5A	chr16:75589217-75590129	GM12878	blood:	n/a	chr16:75589648-75589660
16	E2F6	chr16:75589536-75590376	K562	blood:	n/a	chr16:75590246-75590255 chr16:75589684-75589695
17	POLR2A	chr16:75589007-75590627	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr16:75588972-75589598	HUVEC	blood vessel:	n/a	n/a
19	MYC	chr16:75589123-75590417	NB4	blood:	n/a	chr16:75590241-75590251
20	CBX3	chr16:75588962-75590443	K562	blood:	n/a	n/a
21	MAX	chr16:75589061-75590317	A549	lung:	n/a	chr16:75590241-75590251
22	POLR2A	chr16:75588888-75590521	Hela-S3	cervix:	n/a	n/a
23	MAX	chr16:75589080-75590535	HepG2	liver:	n/a	chr16:75590241-75590251
24	E2F6	chr16:75589564-75590034	K562	blood:	n/a	chr16:75589684-75589695
25	POLR2A	chr16:75589138-75590487	GM15510	blood:	n/a	n/a
26	POLR2A	chr16:75589080-75590494	K562	blood:	n/a	n/a
27	POLR2A	chr16:75589090-75590420	ECC-1	luminal epithelium:	n/a	n/a
28	E2F6	chr16:75588988-75590296	H1-hESC	embryonic stem cell:	n/a	chr16:75590246-75590255 chr16:75589684-75589695
29	PML	chr16:75588989-75590794	GM12878	blood:	n/a	n/a
30	MAX	chr16:75589079-75590385	HepG2	liver:	n/a	chr16:75590241-75590251
31	RCOR1	chr16:75589010-75590509	K562	blood:	n/a	n/a
32	SIN3AK20	chr16:75588983-75590485	MCF-7	breast:	n/a	n/a
33	POLR2A	chr16:75589572-75590423	GM12878	blood:	n/a	n/a
34	POLR2A	chr16:75589169-75590483	GM18526	blood:	n/a	n/a
35	HEY1	chr16:75589058-75589898	K562	blood:	n/a	n/a
36	MAX	chr16:75589014-75590409	Hela-S3	cervix:	n/a	chr16:75590241-75590251
37	UBTF	chr16:75589082-75590365	K562	blood:	n/a	n/a
38	RFX5	chr16:75588609-75591079	SK-N-SH	brain:	n/a	chr16:75590176-75590191 chr16:75590176-75590191 chr16:75589225-75589234 chr16:75590176-75590191 chr16:75590178-75590193
39	HCFC1	chr16:75589110-75590410	K562	blood:	n/a	n/a
40	ELF1	chr16:75589075-75590400	GM12878	blood:	n/a	chr16:75590269-75590278 chr16:75590238-75590250
41	POLR2A	chr16:75589113-75589761	MCF10A-Er-Src	breast:	n/a	n/a
42	NFIC	chr16:75589094-75590500	GM12878	blood:	n/a	n/a
43	MXI1	chr16:75588997-75590393	H1-hESC	embryonic stem cell:	n/a	chr16:75590175-75590190 chr16:75590177-75590192
44	NR2F2	chr16:75588885-75590699	K562	blood:	n/a	n/a
45	POLR2A	chr16:75589102-75590504	GM18951	blood:	n/a	n/a
46	POLR2A	chr16:75589189-75590377	MCF-7	breast:	n/a	n/a
47	HCFC1	chr16:75588626-75590693	Hela-S3	cervix:	n/a	n/a
48	E2F6	chr16:75589399-75590418	H1-hESC	embryonic stem cell:	n/a	chr16:75590246-75590255 chr16:75589684-75589695
49	MAX	chr16:75589015-75590773	K562	blood:	n/a	chr16:75590241-75590251
50	PAX5	chr16:75589588-75589946	GM12891	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75589572-75589622	CMK	blood:	n/a
2	chr16:75589561-75589611	GM12891	blood:	n/a
3	chr16:75589561-75589611	PrEC	prostate:	n/a
4	chr16:75589561-75589611	U87	brain:	n/a
5	chr16:75589561-75589611	PFSK-1	brain:	n/a
6	chr16:75589561-75589611	BE2_C	brain:	n/a
7	chr16:75589572-75589622	AG04450	lung:	fetal
8	chr16:75589572-75589622	BE2_C	brain:	n/a
9	chr16:75589572-75589622	AG04449	skin:	fetal
10	chr16:75589561-75589611	HCPEpiC	choroid plexus:	n/a
11	chr16:75589572-75589622	HCT-116	colon:	n/a
12	chr16:75589561-75589611	LNCaP	prostate:	n/a
13	chr16:75589572-75589622	Jurkat	blood:	n/a
14	chr16:75589561-75589611	GM12892	blood:	n/a
15	chr16:75589561-75589611	HL-60	blood:	n/a
16	chr16:75589572-75589622	GM12878	blood:	n/a
17	chr16:75589572-75589622	Caco-2	colon:	n/a
18	chr16:75589572-75589622	HRCEpiC	kidney:	n/a
19	chr16:75589572-75589622	GM12892	blood:	n/a
20	chr16:75589561-75589611	NHBE	bronchial:	n/a
21	chr16:75589561-75589611	H1-hESC	embryonic stem cell:	embryo
22	chr16:75589572-75589622	IMR90	lung:	fetal
23	chr16:75589572-75589622	NB4	blood:	n/a
24	chr16:75589561-75589611	T-47D	breast:	n/a
25	chr16:75589561-75589611	SK-N-SH	brain:	n/a
26	chr16:75589561-75589611	HEEpiC	esophagus:	n/a
27	chr16:75589572-75589622	MCF10A-Er-Src	breast:	n/a
28	chr16:75589561-75589611	HNPCEpiC	eye:	n/a
29	chr16:75589572-75589622	PrEC	prostate:	n/a
30	chr16:75589561-75589611	IMR90	lung:	fetal
31	chr16:75589572-75589622	BJ	skin:	n/a
32	chr16:75589561-75589611	CMK	blood:	n/a
33	chr16:75589572-75589622	GM06990	blood:	n/a
34	chr16:75589572-75589622	PFSK-1	brain:	n/a
35	chr16:75589561-75589611	A549	lung:	n/a
36	chr16:75589561-75589611	SAEC	small airway:	n/a
37	chr16:75589561-75589611	Caco-2	colon:	n/a
38	chr16:75589572-75589622	PANC-1	pancreas:	n/a
39	chr16:75589561-75589611	HPAEpiC	pulmonary alveolar:	n/a
40	chr16:75589572-75589622	HCPEpiC	choroid plexus:	n/a
41	chr16:75589572-75589622	AoSMC	blood vessel:	n/a
42	chr16:75589561-75589611	MCF10A-Er-Src	breast:	n/a
43	chr16:75589561-75589611	HepG2	liver:	n/a
44	chr16:75589572-75589622	AG10803	skin:	n/a
45	chr16:75589572-75589622	SAEC	small airway:	n/a
46	chr16:75589561-75589611	SK-N-SH_RA	brain:	n/a
47	chr16:75589572-75589622	ovcar-3	ovarian:	n/a
48	chr16:75589572-75589622	Hepatocyte	liver:	n/a
49	chr16:75589561-75589611	GM12878	blood:	n/a
50	chr16:75589561-75589611	Hepatocyte	liver:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75588984..75589674-chr5:149829113..149829684,2	Hela-S3	cervix:
2	chr16:75587108..75590001-chr17:56735204..56737947,2	MCF-7	breast:
3	chr16:75588622..75597419-chr16:75598326..75606239,14	K562	blood:
4	chr16:75589583..75590159-chr3:42641596..42642441,2	Hela-S3	cervix:
5	chr16:75589237..75589871-chr19:50143050..50143568,2	Hela-S3	cervix:
6	chr16:75549961..75554189-chr16:75589462..75592660,4	K562	blood:
7	chr16:75589355..75592242-chr16:75608320..75611115,2	K562	blood:
8	chr10:97849733..97850273-chr16:75589275..75589867,2	Hela-S3	cervix:
9	chr16:75496764..75498931-chr16:75589140..75591199,3	MCF-7	breast:
10	chr16:75588082..75590325-chr16:77223299..77225155,3	K562	blood:
11	chr16:75496580..75498737-chr16:75588829..75590831,2	MCF-7	breast:
12	chr16:75588035..75589877-chr16:75656645..75658476,2	K562	blood:
13	chr16:75588861..75589599-chr5:43121516..43122217,2	Hela-S3	cervix:
14	chr16:75496858..75499850-chr16:75589381..75591063,2	K562	blood:
15	chr16:75549686..75552508-chr16:75588605..75590350,2	MCF-7	breast:
16	chr16:75586208..75590870-chr16:75596068..75600585,8	K562	blood:
17	chr16:75589371..75591308-chr16:75680950..75683874,2	K562	blood:
18	chr16:75589199..75589917-chr5:89705066..89705816,2	Hela-S3	cervix:
19	chr16:75574449..75576989-chr16:75588011..75589806,2	K562	blood:
20	chr16:75465449..75469390-chr16:75587663..75590801,6	K562	blood:
21	chr16:75587953..75591056-chr16:75597056..75601894,6	MCF-7	breast:
22	chr16:75549723..75552104-chr16:75587869..75590374,4	MCF-7	breast:
23	chr16:75588964..75589766-chr4:169931437..169932407,2	Hela-S3	cervix:
24	chr16:75587027..75591762-chr16:75651045..75658145,7	K562	blood:
25	chr16:75564094..75567077-chr16:75588072..75589709,2	K562	blood:
26	chr16:75466075..75467662-chr16:75587828..75590094,2	MCF-7	breast:
27	chr16:75588411..75591308-chr16:75680950..75683486,5	K562	blood:
28	chr16:75574262..75576234-chr16:75588612..75590836,2	MCF-7	breast:
29	chr16:75589388..75590260-chr6:27860868..27861371,2	Hela-S3	cervix:
30	chr16:75587491..75591972-chr16:75596703..75602966,17	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM231	TF binding region
TMEM231	CpG island
ENSG00000065427	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000164587	Chromatin interaction
ENSG00000093183	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000135702	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000226688	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000114857	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000103111	Chromatin interaction
ENSG00000126458	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000251445	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000166848	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11556641	1.00[CHB][hapmap]
rs16940260	1.00[CHB][hapmap]
rs16940348	1.00[CHB][hapmap]
rs16940362	1.00[CHB][hapmap]
rs16940444	1.00[CHB][hapmap]
rs16940961	1.00[CHB][hapmap]
rs16941287	1.00[CHB][hapmap]
rs16941301	1.00[CHB][hapmap]
rs16941409	1.00[CHB][hapmap]
rs16941516	1.00[CHB][hapmap]
rs16942032	1.00[CHB][hapmap]
rs16975835	1.00[EUR][1000 genomes]
rs2242408	1.00[CHB][hapmap]
rs2453141	1.00[CHB][hapmap]
rs2550888	1.00[CHB][hapmap]
rs2550892	1.00[CHB][hapmap]
rs2550893	1.00[CHB][hapmap]
rs2550902	1.00[CHB][hapmap]
rs2641803	1.00[CHB][hapmap]
rs2650411	1.00[CHB][hapmap]
rs2650413	1.00[CHB][hapmap]
rs2738798	1.00[CHB][hapmap]
rs2738799	1.00[CHB][hapmap]
rs28571860	0.81[EUR][1000 genomes]
rs8053257	1.00[CHB][hapmap]
rs920037	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv870450	chr16:75538457-75591359	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	diseases
10	nsv906929	chr16:75569739-75594918	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	30 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	chr16:75588400-75590600	Active TSS	Brain Anterior Caudate	brain
2	chr16:75588600-75589800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:75588600-75590200	Active TSS	GM12878-XiMat	blood
4	chr16:75588600-75590400	Active TSS	K562	blood
5	chr16:75588600-75590400	Active TSS	NH-A	brain
6	chr16:75588600-75590600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:75588600-75590600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr16:75588600-75590600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr16:75588600-75590600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:75588600-75590600	Active TSS	Brain Germinal Matrix	brain
11	chr16:75588600-75590600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr16:75588600-75590800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr16:75588800-75589800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr16:75588800-75590000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr16:75588800-75590000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr16:75588800-75590000	Flanking Active TSS	HUVEC	blood vessel
17	chr16:75588800-75590200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:75588800-75590200	Active TSS	Aorta	Aorta
19	chr16:75588800-75590400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:75588800-75590400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:75588800-75590400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:75588800-75590400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr16:75588800-75590400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:75588800-75590400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:75588800-75590400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:75588800-75590400	Active TSS	Brain Angular Gyrus	brain
27	chr16:75588800-75590400	Active TSS	Brain Hippocampus Middle	brain
28	chr16:75588800-75590400	Active TSS	Brain Substantia Nigra	brain
29	chr16:75588800-75590400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr16:75588800-75590400	Active TSS	Fetal Brain Male	brain
31	chr16:75588800-75590400	Active TSS	Fetal Brain Female	brain
32	chr16:75588800-75590400	Active TSS	Fetal Kidney	kidney
33	chr16:75588800-75590400	Active TSS	NHDF-Ad	bronchial
34	chr16:75588800-75590600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr16:75588800-75590600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:75588800-75590600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:75588800-75590600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:75588800-75590600	Active TSS	Brain Cingulate Gyrus	brain
39	chr16:75588800-75590600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr16:75588800-75590600	Active TSS	Fetal Stomach	stomach
41	chr16:75588800-75590600	Active TSS	Ovary	ovary
42	chr16:75588800-75590600	Active TSS	Right Atrium	heart
43	chr16:75588800-75590600	Active TSS	Right Ventricle	heart
44	chr16:75588800-75590600	Active TSS	NHLF	lung
45	chr16:75588800-75590800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr16:75588800-75590800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr16:75588800-75590800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr16:75588800-75590800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:75589000-75589600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
50	chr16:75589000-75589600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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