Variant report

Variant	rs12035593
Chromosome Location	chr1:171482921-171482922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171482500..171484395-chr1:171486369..171488857,2	K562	blood:
2	chr1:171480931..171484938-chr1:171487047..171489440,3	MCF-7	breast:
3	chr1:171476248..171479748-chr1:171482542..171484607,3	MCF-7	breast:
4	chr1:171455198..171457522-chr1:171482757..171484309,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction
ENSG00000201126	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10913141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12025905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12036058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041639	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12239382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS 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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171456400-171483600	Weak transcription	Fetal Intestine Large	intestine
2	chr1:171463000-171483200	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:171464000-171483200	Weak transcription	Esophagus	oesophagus
4	chr1:171465200-171483200	Weak transcription	NHLF	lung
5	chr1:171465200-171483600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:171468400-171483200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:171468800-171483600	Weak transcription	Gastric	stomach
8	chr1:171469000-171483600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:171470600-171483600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:171470600-171491600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:171471400-171483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:171471400-171485800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:171471600-171483200	Weak transcription	Fetal Brain Female	brain
14	chr1:171471600-171483600	Weak transcription	Brain Germinal Matrix	brain
15	chr1:171471600-171483600	Weak transcription	Fetal Brain Male	brain
16	chr1:171472000-171483800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:171472400-171483600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:171472400-171483600	Weak transcription	Aorta	Aorta
19	chr1:171472600-171483200	Weak transcription	Lung	lung
20	chr1:171472600-171483800	Weak transcription	Fetal Stomach	stomach
21	chr1:171473200-171486400	Weak transcription	Pancreas	Pancrea
22	chr1:171475400-171483200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:171475400-171483600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:171475400-171484000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:171475400-171486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:171475800-171484400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:171475800-171486400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:171475800-171524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:171476000-171483600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:171476000-171498800	Weak transcription	Fetal Heart	heart
31	chr1:171476200-171483200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:171476200-171483600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:171476200-171486600	Weak transcription	Brain Substantia Nigra	brain
34	chr1:171476400-171483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:171476400-171483200	Weak transcription	Thymus	Thymus
36	chr1:171476400-171483800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:171476600-171483600	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:171476600-171483600	Weak transcription	Left Ventricle	heart
39	chr1:171476600-171489000	Weak transcription	Right Ventricle	heart
40	chr1:171476800-171483600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:171476800-171483600	Weak transcription	Psoas Muscle	Psoas
42	chr1:171476800-171483600	Weak transcription	Spleen	Spleen
43	chr1:171477000-171483200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:171477000-171483600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:171477200-171483600	Weak transcription	Colonic Mucosa	Colon
46	chr1:171477400-171484000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:171477400-171486600	Weak transcription	Brain Angular Gyrus	brain
48	chr1:171477600-171483200	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:171477600-171486400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:171478400-171483200	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links