Variant report

Variant	rs11574938
Chromosome Location	chr16:30485393-30485394
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30439379..30441756-chr16:30482330..30485596,3	K562	blood:
2	chr16:30465004..30466750-chr16:30485163..30487457,2	MCF-7	breast:
3	chr16:30457193..30458996-chr16:30484126..30485802,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF771-2	chr16:30485286-30485404	NONHSAT141751

Variant related genes	Relation type
ENSG00000202476	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000179958	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11150589	0.96[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648955	0.93[ASN][1000 genomes]
rs12598978	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12716977	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12926510	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17839542	1.00[CHB][hapmap]
rs2285459	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs34686249	0.85[ASN][1000 genomes]
rs4630562	0.85[EUR][1000 genomes]
rs61598883	0.85[ASN][1000 genomes]
rs62056315	0.85[ASN][1000 genomes]
rs62056316	0.85[ASN][1000 genomes]
rs7186331	0.93[ASN][1000 genomes]
rs7196129	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7197010	0.86[EUR][1000 genomes]
rs8046842	0.93[ASN][1000 genomes]
rs8058719	0.86[ASN][1000 genomes]
rs8059970	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1783	chr16:30449450-30494321	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11574938	BOLA2///LOC440354///LOC595101	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30482800-30486000	Flanking Active TSS	GM12878-XiMat	blood
2	chr16:30483000-30486600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr16:30483000-30487000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr16:30483200-30485600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr16:30483400-30485400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr16:30483400-30485400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr16:30483400-30485600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:30483400-30485600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr16:30483600-30485400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:30483600-30485600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr16:30483600-30486200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr16:30483800-30485800	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr16:30483800-30485800	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr16:30484000-30485400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:30484000-30485400	Active TSS	Lung	lung
16	chr16:30484000-30485400	Active TSS	Spleen	Spleen
17	chr16:30484000-30485600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr16:30484000-30485600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
19	chr16:30484000-30486000	Active TSS	Esophagus	oesophagus
20	chr16:30484000-30486000	Active TSS	Rectal Smooth Muscle	rectum
21	chr16:30484200-30485400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr16:30484200-30485400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr16:30484200-30485800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr16:30484400-30486400	Active TSS	Duodenum Mucosa	Duodenum
25	chr16:30484600-30485600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr16:30484800-30485400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr16:30484800-30486000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr16:30484800-30486400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr16:30485000-30485400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:30485000-30485400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr16:30485000-30485600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:30485000-30485600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr16:30485000-30485600	Active TSS	Small Intestine	intestine
34	chr16:30485000-30485600	Enhancers	Dnd41	blood
35	chr16:30485000-30485800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:30485000-30485800	Enhancers	Primary hematopoietic stem cells	blood
37	chr16:30485000-30486000	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr16:30485000-30486600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:30485200-30485600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr16:30485200-30485600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr16:30485200-30485600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr16:30485200-30485600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:30485200-30485600	Flanking Active TSS	Thymus	Thymus
44	chr16:30485200-30485800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr16:30485200-30486000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr16:30485200-30487000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
47	chr16:30485200-30487000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
48	chr16:30485200-30487600	Enhancers	Placenta	Placenta
49	chr16:30485200-30499600	Weak transcription	Liver	Liver

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