Variant report

Variant	rs8049910
Chromosome Location	chr16:82035603-82035604
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82030016..82033170-chr16:82033184..82035673,3	K562	blood:
2	chr16:82030016..82033170-chr16:82033184..82036470,3	K562	blood:
3	chr16:82035415..82037702-chr16:82043551..82045082,2	MCF-7	breast:
4	chr16:82029300..82030846-chr16:82035555..82037101,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184860	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11865006	1.00[CHB][hapmap]
rs13333826	1.00[CHB][hapmap]
rs13334514	1.00[ASN][1000 genomes]
rs16956130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16956155	0.94[ASN][1000 genomes]
rs16956161	1.00[ASN][1000 genomes]
rs16956174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16956191	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16956202	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16956242	1.00[CHB][hapmap]
rs16956248	1.00[CHB][hapmap]
rs28448747	0.89[ASN][1000 genomes]
rs36043523	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs41530451	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4316745	1.00[ASN][1000 genomes]
rs4354930	1.00[ASN][1000 genomes]
rs4476172	1.00[ASN][1000 genomes]
rs4536470	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4541072	0.89[ASN][1000 genomes]
rs4580158	1.00[ASN][1000 genomes]
rs4591137	1.00[ASN][1000 genomes]
rs4636900	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs58097356	0.89[ASN][1000 genomes]
rs59961458	0.94[ASN][1000 genomes]
rs59976110	1.00[ASN][1000 genomes]
rs61644377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564956	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6564957	0.89[ASN][1000 genomes]
rs7187298	1.00[ASN][1000 genomes]
rs7188332	1.00[CHB][hapmap]
rs7193258	0.94[ASN][1000 genomes]
rs7194226	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7201738	1.00[ASN][1000 genomes]
rs7202626	1.00[ASN][1000 genomes]
rs7205983	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7206672	1.00[ASN][1000 genomes]
rs73598796	1.00[ASN][1000 genomes]
rs73600709	1.00[ASN][1000 genomes]
rs73600733	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73600740	0.89[ASN][1000 genomes]
rs8046900	1.00[CHB][hapmap]
rs8048713	0.94[ASN][1000 genomes]
rs8053337	0.89[ASN][1000 genomes]
rs8054497	1.00[ASN][1000 genomes]
rs8057181	0.87[ASN][1000 genomes]
rs8063026	0.94[ASN][1000 genomes]
rs8063275	0.93[YRI][hapmap]
rs9921872	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9933207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9933660	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82023600-82036600	Weak transcription	Fetal Kidney	kidney
2	chr16:82027400-82044200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:82027800-82041600	Strong transcription	Primary T cells from cord blood	blood
4	chr16:82029400-82041400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:82030000-82044000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:82030600-82037800	Weak transcription	Aorta	Aorta
7	chr16:82030600-82044200	Weak transcription	Small Intestine	intestine
8	chr16:82030800-82042400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:82031000-82044400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:82031200-82038600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr16:82032000-82038000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:82032000-82038400	Strong transcription	Fetal Intestine Large	intestine
13	chr16:82032000-82043400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:82032000-82044400	Weak transcription	Colon Smooth Muscle	Colon
15	chr16:82032000-82044400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr16:82032200-82039200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr16:82032200-82039400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:82032200-82042400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr16:82032200-82042600	Weak transcription	A549	lung
20	chr16:82032400-82044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr16:82033000-82042400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr16:82033600-82036000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:82033600-82038400	Weak transcription	Lung	lung
24	chr16:82033600-82040800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:82033800-82037800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:82033800-82041000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr16:82033800-82042400	Weak transcription	Spleen	Spleen
28	chr16:82033800-82042600	Weak transcription	Colonic Mucosa	Colon
29	chr16:82033800-82044200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr16:82034000-82035800	Weak transcription	Primary B cells from cord blood	blood
31	chr16:82034000-82036600	Weak transcription	Pancreas	Pancrea
32	chr16:82034000-82041200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr16:82034000-82042400	Weak transcription	Fetal Stomach	stomach
34	chr16:82034000-82042400	Weak transcription	Fetal Thymus	thymus
35	chr16:82034000-82042400	Weak transcription	Thymus	Thymus
36	chr16:82034000-82044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr16:82034000-82044400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr16:82034200-82036800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr16:82034200-82042400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:82034200-82042600	Weak transcription	Gastric	stomach
41	chr16:82034200-82043800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr16:82034400-82040400	Weak transcription	HMEC	breast
43	chr16:82034600-82037200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr16:82034600-82042600	Weak transcription	Liver	Liver
45	chr16:82034800-82042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr16:82034800-82044200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr16:82034800-82044200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr16:82035000-82042600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr16:82035200-82039200	Strong transcription	NHEK	skin
50	chr16:82035600-82035800	Genic enhancers	Esophagus	oesophagus

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