Variant report

Variant	rs11670912
Chromosome Location	chr19:40768962-40768963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40763137..40764665-chr19:40768633..40770903,2	MCF-7	breast:
2	chr19:40768260..40771807-chr19:40783478..40786593,4	K562	blood:
3	chr19:40766133..40769095-chr19:40773189..40775084,2	K562	blood:

Variant related genes	Relation type
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11665880	0.80[EUR][1000 genomes]
rs11666690	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11667443	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11668520	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11669006	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11669332	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11670323	0.80[EUR][1000 genomes]
rs11670860	0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11671439	0.86[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17846842	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2356230	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28746190	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35090721	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3730052	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3730055	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs41275746	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41275748	0.89[EUR][1000 genomes]
rs41275750	0.92[EUR][1000 genomes]
rs45497695	0.85[EUR][1000 genomes]
rs56672337	0.85[EUR][1000 genomes]
rs58094119	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59058760	0.85[EUR][1000 genomes]
rs59106111	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508937	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs66623822	0.85[EUR][1000 genomes]
rs67587726	0.85[EUR][1000 genomes]
rs7245751	0.80[EUR][1000 genomes]
rs7247515	0.86[CEU][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7252506	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73933225	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73933232	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73933236	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73933237	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73933238	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73933240	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73933241	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8105478	0.80[EUR][1000 genomes]
rs873143	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs874269	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1063993	chr19:40763787-40781360	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1059884	chr19:40763839-40781360	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40751200-40771200	Weak transcription	Fetal Heart	heart
2	chr19:40753000-40772000	Weak transcription	Fetal Brain Male	brain
3	chr19:40759800-40770600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:40759800-40775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:40759800-40780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:40762000-40779800	Weak transcription	Stomach Mucosa	stomach
7	chr19:40762200-40772200	Weak transcription	NH-A	brain
8	chr19:40762800-40777600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:40762800-40780800	Weak transcription	Small Intestine	intestine
10	chr19:40763000-40769600	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:40763200-40770200	Weak transcription	Osteobl	bone
12	chr19:40763200-40774000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:40763400-40770200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:40763400-40771000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:40763600-40777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:40763800-40777600	Weak transcription	Hela-S3	cervix
17	chr19:40763800-40777600	Weak transcription	HMEC	breast
18	chr19:40765400-40777800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
20	chr19:40766600-40770400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:40766800-40771400	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:40766800-40776600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:40767000-40776200	Strong transcription	Primary T cells from cord blood	blood
24	chr19:40767400-40771000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:40767400-40771200	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr19:40767400-40774800	Strong transcription	Thymus	Thymus
27	chr19:40767600-40770400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:40767600-40771600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr19:40767600-40772200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:40767600-40774800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:40767600-40779600	Strong transcription	Fetal Stomach	stomach
32	chr19:40767800-40770200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:40767800-40771000	Strong transcription	Primary B cells from cord blood	blood
34	chr19:40767800-40771400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:40767800-40771400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr19:40767800-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:40768000-40769000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:40768000-40769000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:40768000-40769400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr19:40768000-40770000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
41	chr19:40768000-40770200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:40768000-40770600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr19:40768000-40770600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:40768000-40770800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr19:40768000-40771000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:40768000-40771200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:40768000-40771200	Strong transcription	Fetal Thymus	thymus
48	chr19:40768000-40771600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:40768000-40771600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr19:40768000-40771600	Strong transcription	A549	lung

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