Variant report

Variant	rs538599578
Chromosome Location	chr16:30711222-30711223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr16:30708484-30711599	IMR90	lung:	n/a	chr16:30709729-30709739 chr16:30710135-30710145 chr16:30710431-30710441 chr16:30709439-30709449
2	CHD1	chr16:30708781-30711645	IMR90	lung:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
3	MXI1	chr16:30708677-30712360	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr16:30709216-30711547	GM12878	blood:	n/a	n/a
5	MAX	chr16:30711127-30711412	K562	blood:	n/a	n/a
6	MYC	chr16:30711213-30711379	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr16:30711068-30711669	K562	blood:	n/a	n/a
8	YY1	chr16:30711200-30711411	K562	blood:	n/a	chr16:30711312-30711331
9	POLR2A	chr16:30709137-30711613	PANC-1	pancreas:	n/a	n/a
10	MXI1	chr16:30711179-30711696	K562	blood:	n/a	n/a
11	MAX	chr16:30709018-30711372	A549	lung:	n/a	chr16:30709729-30709739 chr16:30710135-30710145 chr16:30710431-30710441 chr16:30709439-30709449
12	TEAD4	chr16:30709997-30711246	HepG2	liver:	n/a	n/a
13	GABPA	chr16:30709071-30711343	MCF-7	breast:	n/a	chr16:30710025-30710036 chr16:30710022-30710036 chr16:30710025-30710034 chr16:30710433-30710442
14	POLR2A	chr16:30711218-30711223	K562	blood:	n/a	n/a
15	WRNIP1	chr16:30710462-30711574	GM12878	blood:	n/a	n/a
16	HCFC1	chr16:30708556-30711606	Hela-S3	cervix:	n/a	n/a

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:30455606..30458021-chr16:30708271..30711860,5	K562	blood:
2	chr16:30667783..30674540-chr16:30707310..30714065,38	K562	blood:
3	chr16:30102105..30104221-chr16:30710076..30711578,2	MCF-7	breast:
4	chr16:30369886..30371566-chr16:30709184..30711888,2	MCF-7	breast:
5	chr16:30708426..30712348-chr16:30772033..30775384,7	MCF-7	breast:
6	chr16:30537208..30540827-chr16:30710007..30712078,3	MCF-7	breast:
7	chr16:30709832..30711688-chr16:30788806..30790347,2	MCF-7	breast:
8	chr16:30537007..30539690-chr16:30709715..30713303,3	K562	blood:
9	chr16:30381749..30384813-chr16:30709284..30711839,3	MCF-7	breast:
10	chr16:30707963..30711732-chr16:30932569..30936139,6	K562	blood:
11	chr16:30123424..30125904-chr16:30709036..30711969,2	K562	blood:
12	chr16:30674519..30676444-chr16:30709698..30711527,2	K562	blood:
13	chr16:30708929..30712034-chr16:30758251..30761730,4	K562	blood:
14	chr16:30707422..30715768-chr16:30721242..30729414,24	MCF-7	breast:
15	chr16:30708356..30712729-chr16:30907440..30911095,7	K562	blood:
16	chr16:30428007..30431562-chr16:30708422..30711318,5	MCF-7	breast:
17	chr16:30708909..30711747-chr16:30932178..30935236,6	MCF-7	breast:
18	chr16:30707234..30713291-chr16:30747398..30755461,17	MCF-7	breast:
19	chr16:30709491..30711617-chr16:30777557..30779616,3	K562	blood:
20	chr16:30660833..30664856-chr16:30708365..30711306,8	MCF-7	breast:
21	chr16:30660775..30663969-chr16:30709456..30712373,8	K562	blood:
22	chr16:30707181..30712037-chr16:30757231..30762842,12	MCF-7	breast:
23	chr16:30710639..30712268-chr16:30903660..30905594,2	MCF-7	breast:
24	chr16:30708652..30711335-chr16:30903340..30907064,3	K562	blood:
25	chr16:30709500..30711717-chr16:31190248..31191999,2	MCF-7	breast:
26	chr16:30706444..30711338-chr16:30796616..30799537,5	MCF-7	breast:
27	chr16:30678341..30683972-chr16:30708353..30711640,7	K562	blood:
28	chr16:30678548..30685862-chr16:30707986..30712280,7	K562	blood:
29	chr16:30709802..30712559-chr16:30757474..30761628,7	MCF-7	breast:
30	chr16:30388749..30390462-chr16:30709346..30711383,3	MCF-7	breast:
31	chr16:30710536..30712181-chr16:30733046..30734815,2	K562	blood:
32	chr16:30708001..30712248-chr16:30758568..30761366,5	K562	blood:
33	chr16:30707557..30712450-chr16:30785751..30791890,10	K562	blood:
34	chr16:30708679..30711292-chr16:30884287..30888063,3	MCF-7	breast:
35	chr16:30665738..30673826-chr16:30707321..30713630,33	K562	blood:
36	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
37	chr16:30707849..30711301-chr16:30785397..30790684,8	K562	blood:
38	chr16:30074678..30077586-chr16:30709449..30711347,4	K562	blood:
39	chr16:30085772..30087624-chr16:30709718..30711335,2	K562	blood:
40	chr16:30709959..30711642-chr16:30773675..30775818,2	K562	blood:
41	chr16:30708050..30711529-chr16:30932244..30936391,8	K562	blood:
42	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:
43	chr16:30417608..30419316-chr16:30708536..30711267,2	MCF-7	breast:
44	chr16:30709491..30711617-chr16:30777557..30779152,2	K562	blood:
45	chr16:30708138..30712367-chr16:30742355..30746018,6	K562	blood:
46	chr16:30709744..30712013-chr16:30968880..30970502,2	MCF-7	breast:
47	chr16:30708170..30712232-chr16:30770048..30773747,7	MCF-7	breast:
48	chr16:30707689..30714423-chr16:30749050..30754714,18	MCF-7	breast:
49	chr16:30708502..30711286-chr16:30712051..30717294,7	K562	blood:
50	chr16:30660345..30663986-chr16:30707025..30711349,10	K562	blood:

No data

Variant related genes	Relation type
SRCAP	TF binding region
ENSG00000261840	TF binding region
ENSG00000149925	Chromatin interaction
ENSG00000149923	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000206755	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000102886	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000199787	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
11	esv3372612	chr16:30709076-30711624	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	n/a
12	esv33681	chr16:30711208-30714408	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	33 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30708800-30711600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:30709000-30711400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:30709000-30711400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:30709000-30711400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr16:30709200-30711400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr16:30709200-30711400	Active TSS	Esophagus	oesophagus
7	chr16:30709200-30711800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr16:30709400-30711400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr16:30709400-30711400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr16:30709400-30711400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr16:30709400-30711600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr16:30709600-30711400	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
13	chr16:30710200-30711400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:30710400-30711400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:30710400-30711400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:30710400-30711400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr16:30710600-30711400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:30710600-30711400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr16:30710600-30711400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr16:30710600-30711400	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr16:30710600-30711400	Flanking Active TSS	HUVEC	blood vessel
22	chr16:30710600-30711600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:30710600-30711600	Flanking Active TSS	Liver	Liver
24	chr16:30710600-30711600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
25	chr16:30710600-30711600	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr16:30710600-30711800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
27	chr16:30710800-30711400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:30710800-30711400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:30710800-30711400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:30710800-30711400	Flanking Active TSS	Osteobl	bone
31	chr16:30710800-30711600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:30710800-30711600	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr16:30710800-30711800	Flanking Active TSS	Fetal Heart	heart
34	chr16:30711000-30711400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:30711000-30711400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr16:30711000-30711400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:30711000-30711400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:30711000-30711400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr16:30711000-30711400	Flanking Active TSS	Fetal Kidney	kidney
40	chr16:30711000-30711400	Enhancers	Left Ventricle	heart
41	chr16:30711000-30711400	Enhancers	Lung	lung
42	chr16:30711000-30711400	Weak transcription	Ovary	ovary
43	chr16:30711000-30711400	Flanking Active TSS	GM12878-XiMat	blood
44	chr16:30711000-30711400	Flanking Active TSS	HSMM	muscle
45	chr16:30711000-30711400	Flanking Active TSS	NHDF-Ad	bronchial
46	chr16:30711000-30711600	Genic enhancers	Primary B cells from cord blood	blood
47	chr16:30711000-30711600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:30711000-30711600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:30711000-30711600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:30711000-30711600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine

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