Variant report

Variant	rs12128029
Chromosome Location	chr1:168888585-168888586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168872513..168874576-chr1:168888387..168891154,2	MCF-7	breast:
2	chr1:168887188..168892256-chr1:169072302..169079040,8	MCF-7	breast:
3	chr1:168875686..168878179-chr1:168887956..168889828,4	MCF-7	breast:
4	chr1:168881969..168885467-chr1:168887830..168890604,3	K562	blood:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction
ENSG00000237707	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10737544	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10800396	0.96[ASN][1000 genomes]
rs10919019	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12096067	0.81[ASN][1000 genomes]
rs1407478	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1407481	0.84[ASN][1000 genomes]
rs2900884	0.89[ASN][1000 genomes]
rs4656169	0.89[ASN][1000 genomes]
rs4656625	0.96[ASN][1000 genomes]
rs4656626	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4656627	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4656628	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6427160	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6427161	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6692447	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67169143	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168879200-168890400	Weak transcription	Aorta	Aorta
2	chr1:168884400-168889800	Weak transcription	Psoas Muscle	Psoas
3	chr1:168886200-168890600	Enhancers	HMEC	breast
4	chr1:168886400-168888600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:168886400-168889000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:168886400-168889400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:168886400-168889600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:168886600-168888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:168886600-168889000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:168886600-168889400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:168886800-168889200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:168886800-168889200	Enhancers	Brain Anterior Caudate	brain
13	chr1:168886800-168890200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:168886800-168890400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:168887000-168889000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:168887200-168888600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:168887200-168888800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:168887200-168888800	Enhancers	Brain Hippocampus Middle	brain
19	chr1:168887200-168891400	Enhancers	Adipose Nuclei	Adipose
20	chr1:168887400-168888800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:168887400-168889200	Weak transcription	Fetal Lung	lung
22	chr1:168887400-168889600	Enhancers	Brain Substantia Nigra	brain
23	chr1:168887600-168889200	Weak transcription	Fetal Stomach	stomach
24	chr1:168887600-168889200	Weak transcription	Left Ventricle	heart
25	chr1:168887600-168889400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:168887800-168889800	Enhancers	HUVEC	blood vessel
27	chr1:168887800-168890400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:168887800-168891800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:168887800-168893400	Enhancers	HepG2	liver
30	chr1:168888000-168888600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:168888000-168889400	Enhancers	A549	lung
32	chr1:168888000-168891800	Enhancers	Stomach Mucosa	stomach
33	chr1:168888200-168888600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:168888200-168888600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:168888200-168888600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:168888200-168888600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr1:168888200-168888600	Enhancers	Brain Germinal Matrix	brain
38	chr1:168888200-168888800	Enhancers	Hela-S3	cervix
39	chr1:168888200-168889000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:168888200-168889400	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr1:168888200-168889400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:168888400-168889200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:168888400-168889200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:168888400-168889200	Weak transcription	Pancreas	Pancrea
45	chr1:168888400-168889400	Weak transcription	Fetal Kidney	kidney

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