Variant report

Variant	rs11861194
Chromosome Location	chr16:70761838-70761839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70761517..70763051-chr16:70766034..70768582,2	K562	blood:
2	chr16:70718434..70719938-chr16:70760026..70761921,2	K562	blood:
3	chr16:70725942..70727688-chr16:70759419..70762080,2	K562	blood:
4	chr16:70749284..70751657-chr16:70760367..70762394,2	MCF-7	breast:
5	chr16:70760849..70763441-chr16:70769230..70771713,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11862112	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862154	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56694912	1.00[AMR][1000 genomes]
rs57436617	1.00[AMR][1000 genomes]
rs58623884	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188599	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
8	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
9	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
2	chr16:70750400-70764800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr16:70750400-70767000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70750600-70766600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:70750800-70771800	Weak transcription	A549	lung
6	chr16:70752600-70770800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr16:70753200-70766400	Strong transcription	Primary T cells from cord blood	blood
8	chr16:70753400-70767200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr16:70753800-70764800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr16:70754200-70768800	Weak transcription	Osteobl	bone
11	chr16:70754400-70764800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:70754400-70776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:70754400-70780000	Weak transcription	Hela-S3	cervix
14	chr16:70754600-70764800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:70754800-70764800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr16:70755200-70769600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr16:70755600-70774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:70755800-70772000	Weak transcription	Small Intestine	intestine
19	chr16:70756000-70762200	Weak transcription	Dnd41	blood
20	chr16:70756600-70768600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:70757600-70762200	Enhancers	Right Ventricle	heart
22	chr16:70757800-70766000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr16:70758400-70768800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr16:70758600-70762200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr16:70758800-70762200	Enhancers	Ovary	ovary
26	chr16:70759000-70766400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr16:70759000-70766400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:70759600-70762200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr16:70759600-70762600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:70759800-70762400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:70759800-70766000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:70759800-70766200	Strong transcription	Thymus	Thymus
33	chr16:70759800-70766400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:70759800-70769600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr16:70759800-70770400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:70760000-70763600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:70760000-70764800	Weak transcription	HMEC	breast
38	chr16:70760000-70769000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:70760000-70784200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:70760200-70763400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr16:70760200-70766400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr16:70760400-70762200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr16:70760400-70762400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:70760400-70762800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr16:70760400-70763200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:70760400-70763600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:70760400-70765000	Weak transcription	NHEK	skin
48	chr16:70760400-70766800	Weak transcription	HUVEC	blood vessel
49	chr16:70760600-70762200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr16:70760600-70762400	Enhancers	Colon Smooth Muscle	Colon

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