Variant report

Variant	rs8054981
Chromosome Location	chr16:81601543-81601544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81477018..81482401-chr16:81598968..81605345,9	MCF-7	breast:
2	chr16:81589280..81593699-chr16:81599147..81604604,6	MCF-7	breast:
3	chr16:81599256..81602188-chr16:81606327..81608500,2	MCF-7	breast:
4	chr16:81501153..81503002-chr16:81601427..81603985,2	K562	blood:
5	chr16:81598717..81601651-chr16:81602868..81605781,2	K562	blood:
6	chr16:81572606..81575299-chr16:81599746..81602718,2	MCF-7	breast:
7	chr16:81600677..81603897-chr16:81613066..81616910,4	MCF-7	breast:
8	chr16:81586835..81588438-chr16:81601236..81603502,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13330642	1.00[MEX][hapmap]
rs16955701	1.00[MEX][hapmap]
rs2925978	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv2754804	chr16:81579729-81606569	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv573361	chr16:81591496-81610722	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv524589	chr16:81592934-81609298	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv573362	chr16:81592934-81609298	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2752604	chr16:81595597-81606569	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8054981	ESAM	trans	lymphoblastoid	seeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
2	chr16:81585200-81602000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
4	chr16:81587000-81603800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:81588000-81601600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:81589200-81601800	Weak transcription	Left Ventricle	heart
8	chr16:81590600-81602000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:81592400-81601800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:81593200-81601600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:81593200-81619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr16:81593400-81619200	Weak transcription	K562	blood
16	chr16:81594200-81601800	Weak transcription	Placenta	Placenta
17	chr16:81594400-81606200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr16:81595000-81601600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:81596400-81601800	Weak transcription	Right Atrium	heart
20	chr16:81596400-81601800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:81596600-81601800	Weak transcription	Ovary	ovary
22	chr16:81596600-81601800	Weak transcription	Small Intestine	intestine
23	chr16:81597200-81601800	Weak transcription	Right Ventricle	heart
24	chr16:81597600-81601800	Weak transcription	Lung	lung
25	chr16:81598000-81602000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:81598200-81603400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr16:81598200-81609200	Weak transcription	Brain Angular Gyrus	brain
28	chr16:81598400-81601600	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:81598400-81601800	Weak transcription	NH-A	brain
30	chr16:81598400-81603600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:81598600-81601600	Weak transcription	HSMM	muscle
32	chr16:81598600-81601600	Weak transcription	NHDF-Ad	bronchial
33	chr16:81598600-81602000	Weak transcription	Brain Substantia Nigra	brain
34	chr16:81598600-81609200	Genic enhancers	HepG2	liver
35	chr16:81598800-81601600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:81598800-81601600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr16:81598800-81601600	Weak transcription	HSMMtube	muscle
38	chr16:81598800-81601800	Weak transcription	Adipose Nuclei	Adipose
39	chr16:81599000-81601600	Weak transcription	Brain Hippocampus Middle	brain
40	chr16:81599000-81601600	Weak transcription	Esophagus	oesophagus
41	chr16:81599000-81601800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:81599000-81608600	Genic enhancers	Fetal Intestine Small	intestine
43	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:81599200-81601600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr16:81599200-81601800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr16:81599200-81601800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr16:81599200-81602000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr16:81599200-81603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:81599200-81604400	Enhancers	Fetal Intestine Large	intestine
50	chr16:81599200-81614600	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links