Variant report

Variant	rs11761896
Chromosome Location	chr7:97763497-97763498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97755056..97757047-chr7:97761985..97763988,2	MCF-7	breast:
2	chr7:97762013..97763550-chr7:97791568..97793492,2	MCF-7	breast:
3	chr7:97756277..97758214-chr7:97760043..97763827,4	MCF-7	breast:
4	chr7:97762740..97765611-chr7:97766215..97769576,3	K562	blood:

Variant related genes	Relation type
ENSG00000164715	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1039057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11762771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11762810	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11768678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11772060	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11773169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532380	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17169325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4729404	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4729408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55761857	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55765204	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56006208	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56034325	0.95[EUR][1000 genomes]
rs56088922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56174823	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56389625	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58911561	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62479768	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62479773	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62479795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62479797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73149199	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs740208	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs884897	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11761896	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL
rs11761896	AKAP8	trans	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97737200-97764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:97737800-97767000	Weak transcription	Fetal Stomach	stomach
3	chr7:97741200-97767600	Weak transcription	Fetal Brain Male	brain
4	chr7:97745600-97781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:97746400-97772600	Weak transcription	Fetal Kidney	kidney
6	chr7:97746600-97767000	Weak transcription	Esophagus	oesophagus
7	chr7:97751400-97767600	Weak transcription	Brain Germinal Matrix	brain
8	chr7:97752600-97780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:97755800-97767400	Weak transcription	Fetal Brain Female	brain
10	chr7:97756200-97767000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:97758600-97766800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:97758800-97763600	Enhancers	Left Ventricle	heart
13	chr7:97759000-97763600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:97759200-97763600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr7:97759600-97764600	Enhancers	Fetal Intestine Small	intestine
16	chr7:97759800-97763600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:97759800-97763600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:97759800-97764200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr7:97760200-97764000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr7:97760400-97763600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr7:97760400-97763800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr7:97760400-97766200	Enhancers	Stomach Mucosa	stomach
23	chr7:97760600-97763800	Enhancers	K562	blood
24	chr7:97760600-97764200	Enhancers	HMEC	breast
25	chr7:97760600-97764600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:97760600-97764800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:97760600-97765800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:97760600-97772000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:97760800-97763600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr7:97760800-97764000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:97760800-97764000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:97760800-97764800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:97761000-97764000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:97761000-97764000	Enhancers	Fetal Thymus	thymus
35	chr7:97761000-97767400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:97761200-97764000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:97761200-97764600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:97761200-97767000	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:97761400-97764000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:97761400-97764000	Weak transcription	Brain Angular Gyrus	brain
41	chr7:97761400-97764400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr7:97761400-97767200	Weak transcription	Fetal Lung	lung
43	chr7:97761400-97781000	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:97761600-97763600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:97761600-97763600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:97761600-97763600	Enhancers	NHDF-Ad	bronchial
47	chr7:97761600-97763600	Enhancers	Osteobl	bone
48	chr7:97761600-97763800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:97761600-97763800	Enhancers	HUVEC	blood vessel
50	chr7:97761600-97763800	Enhancers	NHEK	skin

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