Variant report

Variant	rs11863319
Chromosome Location	chr16:70834209-70834210
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70832610..70835420-chr16:70895193..70897574,2	MCF-7	breast:
2	chr16:70816811..70818321-chr16:70832998..70834793,2	K562	blood:
3	chr16:70811715..70814329-chr16:70831689..70834384,2	MCF-7	breast:
4	chr16:70820021..70824247-chr16:70832528..70836441,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction
ENSG00000157423	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1009285	0.85[ASN][1000 genomes]
rs11864614	0.94[ASN][1000 genomes]
rs11866379	0.93[ASN][1000 genomes]
rs12920588	0.85[ASN][1000 genomes]
rs12924064	0.87[ASN][1000 genomes]
rs12926985	0.98[ASN][1000 genomes]
rs12928270	0.96[ASN][1000 genomes]
rs12929374	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12934723	0.98[ASN][1000 genomes]
rs12935645	0.98[ASN][1000 genomes]
rs13335758	0.96[ASN][1000 genomes]
rs1551528	0.84[ASN][1000 genomes]
rs1551529	0.87[ASN][1000 genomes]
rs16970513	0.86[ASN][1000 genomes]
rs28676580	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34268521	0.89[ASN][1000 genomes]
rs35144432	0.93[ASN][1000 genomes]
rs35426120	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35665975	0.85[ASN][1000 genomes]
rs3760118	0.82[ASN][1000 genomes]
rs3855651	0.89[ASN][1000 genomes]
rs4985364	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985425	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs52826576	0.85[ASN][1000 genomes]
rs60190856	0.93[ASN][1000 genomes]
rs713511	0.96[ASN][1000 genomes]
rs71384769	0.96[ASN][1000 genomes]
rs71401831	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7185921	0.86[ASN][1000 genomes]
rs7188712	0.82[ASN][1000 genomes]
rs7202363	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8044133	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8052615	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8060947	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9931380	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70820400-70834400	Weak transcription	Aorta	Aorta
2	chr16:70832600-70834400	Enhancers	Small Intestine	intestine
3	chr16:70833200-70834400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr16:70833200-70834600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr16:70833200-70834600	Flanking Active TSS	Hela-S3	cervix
6	chr16:70833400-70834400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:70833400-70834400	Flanking Active TSS	GM12878-XiMat	blood
8	chr16:70833400-70834600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:70833400-70834600	Flanking Active TSS	Dnd41	blood
10	chr16:70833600-70834400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:70833600-70834400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:70833600-70834400	Flanking Active TSS	K562	blood
13	chr16:70833600-70834600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:70833600-70834600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr16:70833600-70834600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr16:70833600-70835200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr16:70833600-70835400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr16:70833600-70835400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr16:70833600-70835600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr16:70833600-70835600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:70833800-70834400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr16:70833800-70834600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:70833800-70834600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:70833800-70834600	Flanking Active TSS	Fetal Brain Female	brain
25	chr16:70833800-70834600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr16:70833800-70834800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:70833800-70834800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr16:70833800-70835400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr16:70833800-70835400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr16:70833800-70835400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr16:70833800-70835400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:70834000-70834400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr16:70834000-70834400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr16:70834000-70834400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr16:70834000-70834400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr16:70834000-70834400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:70834000-70834400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:70834000-70834400	Flanking Active TSS	NHDF-Ad	bronchial
39	chr16:70834000-70834600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:70834000-70834600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr16:70834000-70834600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr16:70834000-70834600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:70834000-70834600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr16:70834000-70834600	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr16:70834000-70834600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr16:70834000-70834600	Flanking Active TSS	Fetal Heart	heart
47	chr16:70834000-70834600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr16:70834000-70834600	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr16:70834000-70834600	Flanking Active TSS	HSMMtube	muscle
50	chr16:70834000-70834600	Flanking Active TSS	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links