Variant report

Variant	rs7912697
Chromosome Location	chr10:49518817-49518818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49518153..49519864-chr10:49521781..49524737,2	MCF-7	breast:
2	chr10:49516260..49519086-chr10:49729762..49732585,2	K562	blood:
3	chr10:49517027..49519236-chr10:49642083..49643882,2	K562	blood:
4	chr10:49517538..49519332-chr10:49540338..49542175,2	MCF-7	breast:
5	chr10:49518118..49521667-chr10:49532319..49534589,3	K562	blood:
6	chr10:49513387..49516033-chr10:49518059..49520914,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10218874	0.82[ASN][1000 genomes]
rs10437448	0.89[ASN][1000 genomes]
rs10508901	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10745266	0.89[ASN][1000 genomes]
rs10745269	0.88[ASN][1000 genomes]
rs10745270	0.83[ASN][1000 genomes]
rs10776592	0.81[ASN][1000 genomes]
rs10776593	0.81[ASN][1000 genomes]
rs10776594	0.81[ASN][1000 genomes]
rs10776595	0.88[ASN][1000 genomes]
rs10776596	0.88[ASN][1000 genomes]
rs10776598	0.84[ASN][1000 genomes]
rs10857561	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10857567	0.94[EUR][1000 genomes]
rs11101290	0.88[ASN][1000 genomes]
rs11101306	0.83[ASN][1000 genomes]
rs11599396	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1345103	0.84[ASN][1000 genomes]
rs1919706	0.81[ASN][1000 genomes]
rs1919708	0.86[ASN][1000 genomes]
rs1919709	0.81[ASN][1000 genomes]
rs1919712	0.88[ASN][1000 genomes]
rs1919713	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2263102	0.83[ASN][1000 genomes]
rs2377351	0.82[EUR][1000 genomes]
rs2440861	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2463959	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2463960	0.81[ASN][1000 genomes]
rs2590381	0.83[ASN][1000 genomes]
rs2698761	0.81[ASN][1000 genomes]
rs2698766	0.84[ASN][1000 genomes]
rs2698767	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2889611	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2921271	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3950310	0.83[ASN][1000 genomes]
rs4838405	0.81[ASN][1000 genomes]
rs4838591	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61840543	0.82[ASN][1000 genomes]
rs6537560	0.86[ASN][1000 genomes]
rs6537561	0.86[ASN][1000 genomes]
rs7072515	0.88[ASN][1000 genomes]
rs7076214	0.98[ASN][1000 genomes]
rs7086070	0.88[ASN][1000 genomes]
rs7101060	0.88[ASN][1000 genomes]
rs72794398	0.96[EUR][1000 genomes]
rs734371	0.84[ASN][1000 genomes]
rs867631	0.86[ASN][1000 genomes]
rs874208	0.92[EUR][1000 genomes]
rs883604	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550812	chr10:49484698-49524715	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7912697	MAPK8	Cis_1M	lymphoblastoid	RTeQTL
rs7912697	MAPK8	cis	Thyroid	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49515600-49525600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:49515600-49541400	Weak transcription	Lung	lung
3	chr10:49515800-49522200	Weak transcription	Aorta	Aorta
4	chr10:49516000-49519400	Enhancers	Liver	Liver
5	chr10:49516000-49521000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr10:49516000-49524600	Weak transcription	Stomach Mucosa	stomach
7	chr10:49516000-49525400	Weak transcription	Left Ventricle	heart
8	chr10:49516000-49525600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:49516000-49525600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:49516200-49524400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:49516400-49519000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:49516400-49519600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr10:49516400-49519800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr10:49516400-49521800	Weak transcription	Right Ventricle	heart
15	chr10:49516400-49525400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:49516400-49525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr10:49516400-49525600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:49516400-49525600	Weak transcription	Brain Anterior Caudate	brain
19	chr10:49516400-49526400	Weak transcription	Brain Substantia Nigra	brain
20	chr10:49516400-49528000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr10:49516400-49528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:49516400-49535000	Weak transcription	Fetal Muscle Leg	muscle
23	chr10:49516400-49538400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr10:49516400-49538800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:49516400-49541400	Weak transcription	Right Atrium	heart
26	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr10:49516600-49519200	Enhancers	Small Intestine	intestine
29	chr10:49516600-49519800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr10:49516600-49520000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:49516600-49520000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:49516600-49525200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr10:49516600-49525400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:49516600-49538400	Weak transcription	Primary B cells from cord blood	blood
35	chr10:49516600-49538600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:49516600-49538600	Weak transcription	Fetal Stomach	stomach
37	chr10:49516800-49519000	Enhancers	Fetal Brain Male	brain
38	chr10:49516800-49524400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:49517200-49519000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:49517200-49520000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:49517200-49520800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr10:49517400-49519000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:49517400-49519000	Enhancers	HMEC	breast
44	chr10:49517400-49520000	Enhancers	Fetal Heart	heart
45	chr10:49517600-49519200	Enhancers	Fetal Brain Female	brain
46	chr10:49517600-49519400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr10:49517600-49519600	Enhancers	Colon Smooth Muscle	Colon
48	chr10:49517600-49525400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:49517800-49522600	Weak transcription	Brain Hippocampus Middle	brain
50	chr10:49517800-49544600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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