Variant report

Variant	rs184006862
Chromosome Location	chr16:82204012-82204013
allele	G/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	ELF1	chr16:82203548-82204036	HepG2	liver:	n/a	chr16:82203652-82203664
2	POLR2A	chr16:82203282-82204437	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr16:82203445-82204598	K562	blood:	n/a	chr16:82203969-82203978 chr16:82203907-82203916 chr16:82203824-82203833 chr16:82203650-82203659
4	ZBTB7A	chr16:82204004-82204553	ECC-1	luminal epithelium:	n/a	n/a
5	MAZ	chr16:82203399-82204535	IMR90	lung:	n/a	chr16:82203651-82203661 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
6	MAZ	chr16:82203582-82204258	HepG2	liver:	n/a	chr16:82203651-82203661 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
7	FOXA1	chr16:82203349-82204040	T-47D	breast:	n/a	n/a
8	POLR2A	chr16:82203566-82204046	HCT-116	colon:	n/a	n/a
9	REST	chr16:82203377-82204165	HL-60	blood:	n/a	n/a
10	KAP1	chr16:82203403-82204429	HEK293	kidney:	n/a	n/a
11	MAX	chr16:82203410-82204516	SK-N-SH	brain:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
12	GATA3	chr16:82203744-82204478	A549	lung:	n/a	chr16:82204235-82204246
13	BACH1	chr16:82203841-82204108	H1-hESC	embryonic stem cell:	n/a	n/a
14	BHLHE40	chr16:82203428-82204348	HepG2	liver:	n/a	n/a
15	POLR2A	chr16:82200674-82204569	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr16:82203327-82204557	HepG2	liver:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
17	MAX	chr16:82203394-82204562	ECC-1	luminal epithelium:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
18	MYC	chr16:82203483-82204289	HepG2	liver:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
19	ELF1	chr16:82203393-82204417	GM12878	blood:	n/a	chr16:82203652-82203664
20	MAX	chr16:82203321-82204532	HCT-116	colon:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
21	PML	chr16:82203411-82204324	GM12878	blood:	n/a	n/a
22	MAX	chr16:82203397-82204551	MCF-7	breast:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
23	POLR2A	chr16:82203385-82204084	K562	blood:	n/a	n/a
24	CEBPD	chr16:82203484-82204114	HepG2	liver:	n/a	n/a
25	E2F6	chr16:82203766-82204025	K562	blood:	n/a	chr16:82203969-82203978 chr16:82203907-82203916 chr16:82203824-82203833
26	UBTF	chr16:82203367-82204517	K562	blood:	n/a	n/a
27	CEBPB	chr16:82203556-82204068	Hela-S3	cervix:	n/a	n/a
28	HDAC2	chr16:82203793-82204036	K562	blood:	n/a	chr16:82203904-82203913
29	BHLHE40	chr16:82203395-82204432	K562	blood:	n/a	n/a
30	TCF7L2	chr16:82203468-82204489	HCT-116	colon:	n/a	chr16:82204236-82204245
31	HA-E2F1	chr16:82203633-82204203	Hela-S3	cervix:	n/a	chr16:82203969-82203978 chr16:82203907-82203916 chr16:82203824-82203833 chr16:82203650-82203659
32	GTF2F1	chr16:82203483-82204083	H1-hESC	embryonic stem cell:	n/a	n/a
33	IRF1	chr16:82203438-82204353	K562	blood:	n/a	n/a
34	EP300	chr16:82203923-82204124	GM12878	blood:	n/a	chr16:82203969-82203978
35	POLR2A	chr16:82203356-82204518	U87	brain:	n/a	n/a
36	SIN3A	chr16:82203411-82204385	H1-hESC	embryonic stem cell:	n/a	chr16:82203987-82203998
37	CHD2	chr16:82203532-82204361	K562	blood:	n/a	n/a
38	POLR2A	chr16:82203414-82204258	MCF-7	breast:	n/a	n/a
39	TAF1	chr16:82203378-82204395	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr16:82203395-82204118	K562	blood:	n/a	n/a
41	RCOR1	chr16:82203356-82204531	K562	blood:	n/a	n/a
42	RFX5	chr16:82203407-82204047	Hela-S3	cervix:	n/a	n/a
43	ELF1	chr16:82203493-82204129	GM12878	blood:	n/a	chr16:82203652-82203664
44	MAFF	chr16:82203537-82204099	HepG2	liver:	n/a	n/a
45	POLR2A	chr16:82202498-82204512	MCF10A-Er-Src	breast:	n/a	n/a
46	HDAC2	chr16:82203385-82204542	MCF-7	breast:	n/a	chr16:82204249-82204268 chr16:82203904-82203913
47	TEAD4	chr16:82203623-82204083	H1-hESC	embryonic stem cell:	n/a	n/a
48	EBF1	chr16:82203910-82204523	GM12878	blood:	n/a	n/a
49	POLR2A	chr16:82203404-82204068	K562	blood:	n/a	n/a
50	ZNF384	chr16:82203631-82204070	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:82203996-82204046	HAEpiC	amniotic membrane:	n/a
2	chr16:82203986-82204036	PrEC	prostate:	n/a
3	chr16:82203986-82204036	HL-60	blood:	n/a
4	chr16:82203986-82204036	NHDF-neo	bronchial:	n/a
5	chr16:82203986-82204036	SK-N-MC	brain:	n/a
6	chr16:82203988-82204038	ovcar-3	ovarian:	n/a
7	chr16:82203996-82204046	ovcar-3	ovarian:	n/a
8	chr16:82203988-82204038	HRCEpiC	kidney:	n/a
9	chr16:82203986-82204036	ovcar-3	ovarian:	n/a
10	chr16:82203986-82204036	AG09319	gingival:	n/a
11	chr16:82203988-82204038	NH-A	brain:	n/a
12	chr16:82203988-82204038	H1-hESC	embryonic stem cell:	embryo
13	chr16:82203986-82204036	K562	blood:	n/a
14	chr16:82203986-82204036	HEEpiC	esophagus:	n/a
15	chr16:82203996-82204046	HIPEpiC	eye:	n/a
16	chr16:82203996-82204046	Caco-2	colon:	n/a
17	chr16:82203986-82204036	RPTEC	kidney:	n/a
18	chr16:82203988-82204038	ProgFib	skin:	n/a
19	chr16:82203988-82204038	ECC-1	luminal epithelium:	n/a
20	chr16:82203996-82204046	K562	blood:	n/a
21	chr16:82203986-82204036	HMEC	breast:	n/a
22	chr16:82203996-82204046	HMEC	breast:	n/a
23	chr16:82203996-82204046	NHDF-neo	bronchial:	n/a
24	chr16:82203996-82204046	AG04449	skin:	fetal
25	chr16:82203988-82204038	HAEpiC	amniotic membrane:	n/a
26	chr16:82203996-82204046	CMK	blood:	n/a
27	chr16:82203986-82204036	Hela-S3	cervix:	n/a
28	chr16:82203996-82204046	ProgFib	skin:	n/a
29	chr16:82203988-82204038	Jurkat	blood:	n/a
30	chr16:82203988-82204038	LNCaP	prostate:	n/a
31	chr16:82203996-82204046	HPAEpiC	pulmonary alveolar:	n/a
32	chr16:82203988-82204038	Hepatocyte	liver:	n/a
33	chr16:82203996-82204046	MCF-7	breast:	n/a
34	chr16:82203988-82204038	NT2-D1	testis:	n/a
35	chr16:82203996-82204046	NT2-D1	testis:	n/a
36	chr16:82203996-82204046	SKMC	muscle:	n/a
37	chr16:82203996-82204046	HCM	heart:	n/a
38	chr16:82203996-82204046	HepG2	liver:	n/a
39	chr16:82203988-82204038	HepG2	liver:	n/a
40	chr16:82203988-82204038	Hela-S3	cervix:	n/a
41	chr16:82203986-82204036	NH-A	brain:	n/a
42	chr16:82203986-82204036	HRE	kidney:	n/a
43	chr16:82203988-82204038	SAEC	small airway:	n/a
44	chr16:82203986-82204036	BE2_C	brain:	n/a
45	chr16:82203988-82204038	NHDF-neo	bronchial:	n/a
46	chr16:82203996-82204046	HCPEpiC	choroid plexus:	n/a
47	chr16:82203986-82204036	HCPEpiC	choroid plexus:	n/a
48	chr16:82203986-82204036	HCF	heart:	n/a
49	chr16:82203986-82204036	NHBE	bronchial:	n/a
50	chr16:82203988-82204038	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr16:82203934..82205687-chr16:82217060..82219188,2	MCF-7	breast:
2	chr16:82203331..82204094-chr7:94536560..94537463,2	HCT-116	colon:
3	chr16:82203527..82204190-chr2:26101329..26101957,2	HCT-116	colon:
4	chr16:82203331..82204106-chr20:18488610..18489467,2	Hela-S3	cervix:
5	chr15:81281954..81282793-chr16:82203347..82204123,2	Hela-S3	cervix:
6	chr11:62608799..62609639-chr16:82203591..82204468,2	NB4	blood:
7	chr16:82203368..82204098-chr18:711824..712742,2	NB4	blood:
8	chr16:82203572..82204072-chr6:31670450..31671114,2	Hela-S3	cervix:

Variant related genes	Relation type
MPHOSPH6	TF binding region
MPHOSPH6	CpG island
ENSG00000158528	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000117899	Chromatin interaction
ENSG00000132199	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000101310	Chromatin interaction
ENSG00000143970	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
7	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking 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	13 gene(s)	inside rSNPs	diseases
15	nsv907015	chr16:82203758-82284056	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr16:82202200-82204400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:82202400-82204400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr16:82202400-82204400	Active TSS	HSMM	muscle
4	chr16:82202600-82204200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr16:82202600-82204200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:82202600-82204200	Active TSS	A549	lung
7	chr16:82202600-82204600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:82202600-82204600	Active TSS	HSMMtube	muscle
9	chr16:82202600-82205000	Active TSS	Fetal Brain Female	brain
10	chr16:82202800-82204200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:82202800-82204600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr16:82202800-82204600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:82202800-82204600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr16:82202800-82204600	Active TSS	Psoas Muscle	Psoas
15	chr16:82203000-82204200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:82203000-82204200	Active TSS	Right Ventricle	heart
17	chr16:82203000-82204200	Active TSS	Osteobl	bone
18	chr16:82203000-82204400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:82203000-82204400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:82203000-82204400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:82203000-82204400	Active TSS	Brain Substantia Nigra	brain
22	chr16:82203000-82204400	Active TSS	NHDF-Ad	bronchial
23	chr16:82203000-82204400	Active TSS	NHEK	skin
24	chr16:82203000-82204400	Active TSS	NHLF	lung
25	chr16:82203000-82204600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:82203000-82204600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:82203000-82204600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:82203000-82204600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:82203000-82204600	Active TSS	Brain Angular Gyrus	brain
30	chr16:82203000-82204600	Active TSS	Brain Anterior Caudate	brain
31	chr16:82203000-82204600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:82203000-82204600	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr16:82203200-82204200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:82203200-82204200	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr16:82203200-82204200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:82203200-82204200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:82203200-82204200	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr16:82203200-82204200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr16:82203200-82204200	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr16:82203200-82204200	Active TSS	Brain Germinal Matrix	brain
41	chr16:82203200-82204200	Active TSS	Duodenum Mucosa	Duodenum
42	chr16:82203200-82204200	Active TSS	Esophagus	oesophagus
43	chr16:82203200-82204200	Active TSS	Fetal Brain Male	brain
44	chr16:82203200-82204200	Active TSS	Lung	lung
45	chr16:82203200-82204200	Active TSS	Thymus	Thymus
46	chr16:82203200-82204200	Active TSS	Hela-S3	cervix
47	chr16:82203200-82204200	Active TSS	K562	blood
48	chr16:82203200-82204400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:82203200-82204400	Active TSS	Colon Smooth Muscle	Colon
50	chr16:82203200-82204400	Active TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links