Variant report

Variant	rs9939286
Chromosome Location	chr16:31162303-31162304
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31162282-31162332	BE2_C	brain:	n/a
2	chr16:31162282-31162332	SKMC	muscle:	n/a
3	chr16:31162282-31162332	Jurkat	blood:	n/a
4	chr16:31162282-31162332	GM12878	blood:	n/a
5	chr16:31162282-31162332	HRCEpiC	kidney:	n/a
6	chr16:31162282-31162332	MCF-7	breast:	n/a
7	chr16:31162282-31162332	HPAEpiC	pulmonary alveolar:	n/a
8	chr16:31162282-31162332	T-47D	breast:	n/a
9	chr16:31162282-31162332	HNPCEpiC	eye:	n/a
10	chr16:31162282-31162332	HIPEpiC	eye:	n/a
11	chr16:31162282-31162332	RPTEC	kidney:	n/a
12	chr16:31162282-31162332	HMEC	breast:	n/a
13	chr16:31162282-31162332	AG04449	skin:	fetal
14	chr16:31162282-31162332	GM19239	blood:	n/a
15	chr16:31162282-31162332	NHDF-neo	bronchial:	n/a
16	chr16:31162282-31162332	PANC-1	pancreas:	n/a
17	chr16:31162282-31162332	GM12891	blood:	n/a
18	chr16:31162282-31162332	ovcar-3	ovarian:	n/a
19	chr16:31162282-31162332	LNCaP	prostate:	n/a
20	chr16:31162282-31162332	SK-N-SH	brain:	n/a
21	chr16:31162282-31162332	IMR90	lung:	fetal
22	chr16:31162282-31162332	NT2-D1	testis:	n/a
23	chr16:31162282-31162332	A549	lung:	n/a
24	chr16:31162282-31162332	HEK293	kidney:	embryo
25	chr16:31162282-31162332	HAEpiC	amniotic membrane:	n/a
26	chr16:31162282-31162332	Caco-2	colon:	n/a
27	chr16:31162282-31162332	NHBE	bronchial:	n/a
28	chr16:31162282-31162332	NH-A	brain:	n/a
29	chr16:31162282-31162332	AG09309	skin:	n/a
30	chr16:31162282-31162332	HEEpiC	esophagus:	n/a
31	chr16:31162282-31162332	AG04450	lung:	fetal
32	chr16:31162282-31162332	HCM	heart:	n/a
33	chr16:31162282-31162332	GM06990	blood:	n/a
34	chr16:31162282-31162332	U87	brain:	n/a
35	chr16:31162282-31162332	MCF10A-Er-Src	breast:	n/a
36	chr16:31162282-31162332	HUVEC	blood vessel:	n/a
37	chr16:31162282-31162332	NB4	blood:	n/a
38	chr16:31162282-31162332	HepG2	liver:	n/a
39	chr16:31162282-31162332	AoSMC	blood vessel:	n/a
40	chr16:31162282-31162332	H1-hESC	embryonic stem cell:	embryo
41	chr16:31162282-31162332	SK-N-MC	brain:	n/a
42	chr16:31162282-31162332	HCT-116	colon:	n/a
43	chr16:31162282-31162332	AG09319	gingival:	n/a
44	chr16:31162282-31162332	HRE	kidney:	n/a
45	chr16:31162282-31162332	ProgFib	skin:	n/a
46	chr16:31162282-31162332	K562	blood:	n/a
47	chr16:31162282-31162332	ECC-1	luminal epithelium:	n/a
48	chr16:31162282-31162332	HCF	heart:	n/a
49	chr16:31162282-31162332	BJ	skin:	n/a
50	chr16:31162282-31162332	Hela-S3	cervix:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
2	chr16:31157660..31164019-chr16:31188659..31195219,17	MCF-7	breast:
3	chr16:30967872..30970200-chr16:31160526..31163254,2	K562	blood:
4	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
5	chr16:31007116..31008966-chr16:31160875..31162951,2	MCF-7	breast:
6	chr16:31151491..31155912-chr16:31157765..31163894,11	MCF-7	breast:

No data

Variant related genes	Relation type
PRSS36	CpG island
ENSG00000099381	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12102776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889625	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57611503	0.98[ASN][1000 genomes]
rs7190802	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
4	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
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
13	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9939286	ZNF768	cis	cerebellar cortex	BrainEAC
rs9939286	RP11-196G11.2	cis	Adipose Subcutaneous	GTEx
rs9939286	MYST1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31154400-31190400	Weak transcription	Right Atrium	heart
2	chr16:31159600-31163800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:31160200-31162600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:31160200-31163000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:31160200-31163800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr16:31160200-31163800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:31160400-31163000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:31160400-31163400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr16:31160600-31163000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr16:31160800-31163000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:31161800-31162600	Enhancers	Primary hematopoietic stem cells	blood
12	chr16:31161800-31162800	Enhancers	Fetal Thymus	thymus
13	chr16:31162000-31162400	Enhancers	Hela-S3	cervix
14	chr16:31162000-31171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links