Variant report

Variant	rs12068499
Chromosome Location	chr1:169272862-169272863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10919089	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10919142	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10919161	1.00[EUR][1000 genomes]
rs10919171	1.00[EUR][1000 genomes]
rs12071302	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12073238	1.00[EUR][1000 genomes]
rs12077900	1.00[EUR][1000 genomes]
rs12081893	1.00[EUR][1000 genomes]
rs12083695	1.00[EUR][1000 genomes]
rs12084554	1.00[EUR][1000 genomes]
rs12086569	1.00[EUR][1000 genomes]
rs12088527	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12088713	1.00[EUR][1000 genomes]
rs12095660	1.00[EUR][1000 genomes]
rs16861916	1.00[EUR][1000 genomes]
rs16862184	1.00[EUR][1000 genomes]
rs16862197	1.00[EUR][1000 genomes]
rs61204485	1.00[EUR][1000 genomes]
rs73033742	1.00[EUR][1000 genomes]
rs73033743	1.00[EUR][1000 genomes]
rs975991	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169252800-169278600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:169252800-169278800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:169253600-169280600	Weak transcription	Fetal Kidney	kidney
4	chr1:169254000-169274800	Weak transcription	Ovary	ovary
5	chr1:169254800-169281000	Weak transcription	Dnd41	blood
6	chr1:169256800-169278600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:169257600-169284800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:169257800-169281200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:169258600-169276400	Weak transcription	HSMM	muscle
10	chr1:169258800-169274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:169258800-169277400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:169259200-169278600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:169259400-169274800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:169259400-169278600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:169259600-169278600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:169259600-169294400	Weak transcription	Pancreas	Pancrea
17	chr1:169260400-169310400	Weak transcription	Fetal Stomach	stomach
18	chr1:169260600-169278800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:169262800-169274600	Weak transcription	Liver	Liver
20	chr1:169262800-169278600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:169263000-169278600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:169264000-169281400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:169264200-169278600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:169264400-169294400	Weak transcription	Left Ventricle	heart
25	chr1:169265000-169278600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
27	chr1:169265200-169277200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:169265200-169278400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:169265200-169281200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:169265400-169281200	Weak transcription	NHDF-Ad	bronchial
31	chr1:169265800-169281000	Weak transcription	Fetal Intestine Large	intestine
32	chr1:169266200-169278600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:169266200-169280200	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:169267000-169278400	Weak transcription	Brain Anterior Caudate	brain
35	chr1:169267000-169281200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:169267800-169281200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:169268000-169278600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:169269000-169278800	Weak transcription	Fetal Brain Female	brain
39	chr1:169269000-169281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:169269200-169281400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:169269400-169281600	Weak transcription	HUVEC	blood vessel
42	chr1:169269600-169274600	Weak transcription	Fetal Lung	lung
43	chr1:169269600-169281000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:169270200-169278600	Weak transcription	Brain Substantia Nigra	brain
45	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:169270400-169277200	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:169270400-169278600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:169271800-169274600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:169271800-169276000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:169271800-169276000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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