Variant report

Variant	rs60749749
Chromosome Location	chr16:30415786-30415787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30385272..30388634-chr16:30412087..30415967,4	K562	blood:
2	chr16:30415573..30417353-chr16:30421502..30423449,2	K562	blood:

Variant related genes	Relation type
ENSG00000180209	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56371701	1.00[AMR][1000 genomes]
rs59324423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59594717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60628262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854012	1.00[AMR][1000 genomes]
rs74015013	1.00[AMR][1000 genomes]
rs74015021	1.00[AMR][1000 genomes]
rs74015027	1.00[AMR][1000 genomes]
rs74015028	1.00[AMR][1000 genomes]
rs8045552	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	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
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking 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	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30412000-30418200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:30412400-30418000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr16:30412400-30418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:30412400-30418000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:30412400-30418000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:30412400-30418000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:30412400-30418000	Weak transcription	Colonic Mucosa	Colon
8	chr16:30412400-30418000	Weak transcription	Esophagus	oesophagus
9	chr16:30412400-30418000	Weak transcription	NHDF-Ad	bronchial
10	chr16:30412400-30418000	Weak transcription	Osteobl	bone
11	chr16:30412400-30418200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:30412400-30418200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr16:30412400-30418200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:30412400-30418200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr16:30412400-30418200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:30412400-30418200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:30412400-30418200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:30412400-30418200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:30412400-30418200	Weak transcription	Brain Germinal Matrix	brain
20	chr16:30412400-30418200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:30412400-30418200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:30412400-30418200	Weak transcription	Pancreas	Pancrea
23	chr16:30412400-30418200	Weak transcription	HMEC	breast
24	chr16:30412400-30418200	Weak transcription	NH-A	brain
25	chr16:30412400-30418400	Weak transcription	Aorta	Aorta
26	chr16:30412600-30418000	Weak transcription	Colon Smooth Muscle	Colon
27	chr16:30412600-30418000	Weak transcription	Placenta	Placenta
28	chr16:30412600-30418200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:30412600-30418200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:30412600-30418200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:30412600-30418200	Weak transcription	Primary B cells from cord blood	blood
32	chr16:30412600-30418200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:30412600-30418200	Weak transcription	Adipose Nuclei	Adipose
34	chr16:30412600-30418200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:30412600-30418200	Weak transcription	Fetal Lung	lung
36	chr16:30412600-30418200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:30412600-30418200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr16:30412600-30418200	Weak transcription	GM12878-XiMat	blood
39	chr16:30412800-30418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr16:30412800-30418000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr16:30412800-30418000	Weak transcription	Fetal Muscle Leg	muscle
42	chr16:30412800-30418200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:30412800-30418200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:30412800-30418200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:30413000-30418200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:30413000-30418200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:30413200-30418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr16:30413200-30418000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr16:30413200-30418000	Weak transcription	Fetal Stomach	stomach
50	chr16:30413200-30418000	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links