Variant report

Variant	rs60687939
Chromosome Location	chr16:30708959-30708960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 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	MXI1	chr16:30708828-30711171	IMR90	lung:	n/a	n/a
3	CHD1	chr16:30708781-30711645	IMR90	lung:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
4	RFX5	chr16:30708865-30710169	K562	blood:	n/a	n/a
5	MAX	chr16:30708956-30711108	HCT-116	colon:	n/a	chr16:30709729-30709739 chr16:30710135-30710145 chr16:30710431-30710441 chr16:30709439-30709449
6	MXI1	chr16:30708677-30712360	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr16:30708519-30711123	SK-N-MC	brain:	n/a	n/a
8	NRF1	chr16:30708949-30710568	K562	blood:	n/a	chr16:30710372-30710383 chr16:30710025-30710036 chr16:30710022-30710036 chr16:30710025-30710034 chr16:30710344-30710355 chr16:30710433-30710442
9	POLR2A	chr16:30708951-30711149	HUVEC	blood vessel:	n/a	n/a
10	NFIC	chr16:30708957-30710899	GM12878	blood:	n/a	n/a
11	MYBL2	chr16:30708912-30710956	HepG2	liver:	n/a	n/a
12	KAP1	chr16:30708755-30709832	U2OS	brain:	n/a	n/a
13	CBX3	chr16:30708656-30710845	K562	blood:	n/a	chr16:30709044-30709055
14	MBD4	chr16:30708756-30709867	HepG2	liver:	n/a	n/a
15	KAP1	chr16:30708946-30709807	HEK293	kidney:	n/a	n/a
16	HCFC1	chr16:30708556-30711606	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr16:30708468-30710928	HepG2	liver:	n/a	n/a
18	REST	chr16:30708891-30710983	H1-neurons	neurons:	n/a	chr16:30710924-30710944 chr16:30709883-30709893
19	TBL1XR1	chr16:30708913-30709807	K562	blood:	n/a	n/a
20	SIN3AK20	chr16:30708905-30711215	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:29816495..29818373-chr16:30708327..30710774,2	K562	blood:
2	chr16:30708214..30710330-chr16:31190333..31193156,2	K562	blood:
3	chr16:30455606..30458021-chr16:30708271..30711860,5	K562	blood:
4	chr16:30667783..30674540-chr16:30707310..30714065,38	K562	blood:
5	chr16:30708299..30711208-chr16:30931702..30936734,5	MCF-7	breast:
6	chr16:30706857..30709074-chr20:52809783..52812744,2	MCF-7	breast:
7	chr16:30661889..30663821-chr16:30707860..30709367,2	K562	blood:
8	chr16:30197379..30199709-chr16:30708853..30710594,2	MCF-7	breast:
9	chr16:30439151..30441186-chr16:30708286..30710869,2	K562	blood:
10	chr16:30708426..30712348-chr16:30772033..30775384,7	MCF-7	breast:
11	chr16:30707963..30711732-chr16:30932569..30936139,6	K562	blood:
12	chr16:30708449..30710196-chr16:31084025..31085788,2	MCF-7	breast:
13	chr16:30708929..30712034-chr16:30758251..30761730,4	K562	blood:
14	chr16:30194759..30196474-chr16:30708321..30710929,2	K562	blood:
15	chr16:30707422..30715768-chr16:30721242..30729414,24	MCF-7	breast:
16	chr16:30708356..30712729-chr16:30907440..30911095,7	K562	blood:
17	chr16:30428007..30431562-chr16:30708422..30711318,5	MCF-7	breast:
18	chr16:30708909..30711747-chr16:30932178..30935236,6	MCF-7	breast:
19	chr16:30707234..30713291-chr16:30747398..30755461,17	MCF-7	breast:
20	chr16:30661013..30665220-chr16:30708206..30710953,10	MCF-7	breast:
21	chr16:30077027..30079067-chr16:30707844..30710245,2	K562	blood:
22	chr16:30660833..30664856-chr16:30708365..30711306,8	MCF-7	breast:
23	chr16:30674544..30676988-chr16:30707710..30709714,2	K562	blood:
24	chr16:30707181..30712037-chr16:30757231..30762842,12	MCF-7	breast:
25	chr16:30074836..30077502-chr16:30708652..30710947,2	MCF-7	breast:
26	chr16:30708652..30711335-chr16:30903340..30907064,3	K562	blood:
27	chr16:30706444..30711338-chr16:30796616..30799537,5	MCF-7	breast:
28	chr16:30678341..30683972-chr16:30708353..30711640,7	K562	blood:
29	chr16:30678548..30685862-chr16:30707986..30712280,7	K562	blood:
30	chr16:30708652..30711178-chr16:30903340..30907064,5	K562	blood:
31	chr16:30708001..30712248-chr16:30758568..30761366,5	K562	blood:
32	chr16:30707557..30712450-chr16:30785751..30791890,10	K562	blood:
33	chr16:30708679..30711292-chr16:30884287..30888063,3	MCF-7	breast:
34	chr16:30439952..30442707-chr16:30707783..30710834,3	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	chr16:30707976..30709572-chr16:30772183..30773840,2	K562	blood:
38	chr16:30707849..30711301-chr16:30785397..30790684,8	K562	blood:
39	chr16:30708050..30711529-chr16:30932244..30936391,8	K562	blood:
40	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:
41	chr16:30707774..30710242-chr16:30903925..30908030,4	MCF-7	breast:
42	chr16:30708565..30710498-chr16:30967693..30970480,3	K562	blood:
43	chr16:30417608..30419316-chr16:30708536..30711267,2	MCF-7	breast:
44	chr16:30708138..30712367-chr16:30742355..30746018,6	K562	blood:
45	chr16:30674962..30677872-chr16:30707305..30709210,3	K562	blood:
46	chr16:30708170..30712232-chr16:30770048..30773747,7	MCF-7	breast:
47	chr16:30545157..30547413-chr16:30708234..30710909,2	K562	blood:
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
ENSG00000150281	Chromatin interaction
ENSG00000103495	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000102879	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000261416	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000206755	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000089280	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57192967	0.95[AFR][1000 genomes]
rs73536495	0.95[AFR][1000 genomes]

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	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30705400-30709000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:30705400-30709200	Weak transcription	Esophagus	oesophagus
3	chr16:30707000-30709400	Weak transcription	Spleen	Spleen
4	chr16:30708400-30709000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr16:30708600-30709000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:30708600-30709000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:30708600-30709000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:30708600-30709000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:30708600-30709000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr16:30708600-30709000	Enhancers	Primary B cells from cord blood	blood
11	chr16:30708600-30709000	Enhancers	Primary hematopoietic stem cells	blood
12	chr16:30708600-30709000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr16:30708600-30709000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr16:30708600-30709000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr16:30708600-30709000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:30708600-30709000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr16:30708600-30709000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:30708600-30709000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:30708600-30709000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:30708600-30709000	Enhancers	Adipose Nuclei	Adipose
21	chr16:30708600-30709000	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr16:30708600-30709000	Enhancers	Fetal Muscle Leg	muscle
23	chr16:30708600-30709000	Enhancers	Placenta	Placenta
24	chr16:30708600-30709000	Enhancers	Gastric	stomach
25	chr16:30708600-30709000	Enhancers	Psoas Muscle	Psoas
26	chr16:30708600-30709000	Enhancers	Stomach Mucosa	stomach
27	chr16:30708600-30709000	Flanking Active TSS	K562	blood
28	chr16:30708600-30709200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:30708600-30709200	Enhancers	Primary B cells from peripheral blood	blood
30	chr16:30708600-30709200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:30708600-30709200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:30708600-30709200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr16:30708600-30709200	Flanking Active TSS	Hela-S3	cervix
34	chr16:30708600-30709200	Flanking Active TSS	HMEC	breast
35	chr16:30708600-30709400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr16:30708600-30709400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:30708600-30709400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr16:30708600-30709400	Flanking Active TSS	Dnd41	blood
39	chr16:30708600-30709600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr16:30708600-30711200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:30708800-30709000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:30708800-30709000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr16:30708800-30709000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:30708800-30709000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr16:30708800-30709000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:30708800-30709000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:30708800-30709000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr16:30708800-30709000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr16:30708800-30709000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr16:30708800-30709000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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