Variant report

Variant	rs35288424
Chromosome Location	chr12:4804692-4804693
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11063307	1.00[ASN][1000 genomes]
rs12809178	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816272	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817218	1.00[ASN][1000 genomes]
rs12821116	1.00[ASN][1000 genomes]
rs12827952	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831221	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931649	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701871	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286579	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34205979	1.00[ASN][1000 genomes]
rs34214125	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34337517	1.00[ASN][1000 genomes]
rs34475613	1.00[ASN][1000 genomes]
rs34502100	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34765166	1.00[ASN][1000 genomes]
rs34947765	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34952740	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35016874	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35464779	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35562639	1.00[ASN][1000 genomes]
rs35715089	0.83[EUR][1000 genomes]
rs35878255	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35899818	1.00[ASN][1000 genomes]
rs35925396	1.00[ASN][1000 genomes]
rs4766273	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007510	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760751	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59096706	1.00[ASN][1000 genomes]
rs59986414	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66703365	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67871557	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68144469	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459918	1.00[ASN][1000 genomes]
rs73038876	1.00[ASN][1000 genomes]
rs7306593	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960763	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4780200-4809200	Weak transcription	Fetal Heart	heart
2	chr12:4787800-4810800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:4791200-4806200	Strong transcription	Primary T cells from cord blood	blood
4	chr12:4791200-4806600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr12:4792600-4809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:4795000-4810000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:4795400-4806800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:4797000-4811000	Weak transcription	Small Intestine	intestine
9	chr12:4797400-4807400	Weak transcription	GM12878-XiMat	blood
10	chr12:4797400-4809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:4797400-4809800	Weak transcription	NH-A	brain
12	chr12:4797600-4805200	Weak transcription	Colonic Mucosa	Colon
13	chr12:4797600-4805400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:4797600-4805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:4797600-4807800	Weak transcription	Brain Substantia Nigra	brain
16	chr12:4797600-4809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:4797600-4809800	Weak transcription	Gastric	stomach
18	chr12:4797600-4809800	Weak transcription	Right Ventricle	heart
19	chr12:4797600-4809800	Weak transcription	NHLF	lung
20	chr12:4797600-4810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:4797600-4810800	Weak transcription	HepG2	liver
22	chr12:4797800-4805800	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:4797800-4809600	Weak transcription	Fetal Brain Male	brain
24	chr12:4797800-4809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:4797800-4809800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:4797800-4810200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:4797800-4810600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:4798000-4808000	Weak transcription	Psoas Muscle	Psoas
29	chr12:4798000-4809200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:4798000-4809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:4798000-4809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:4798000-4809800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:4798000-4810000	Weak transcription	Ovary	ovary
34	chr12:4798000-4811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:4798000-4813400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:4798000-4814200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:4798200-4805400	Weak transcription	Placenta	Placenta
38	chr12:4798200-4805400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:4798200-4805600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:4798200-4806000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:4798200-4810800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:4798400-4805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:4798400-4805400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:4798400-4809800	Weak transcription	Adipose Nuclei	Adipose
45	chr12:4798400-4817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:4799200-4807200	Weak transcription	Brain Angular Gyrus	brain
47	chr12:4799200-4809800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:4799400-4805200	Weak transcription	Pancreas	Pancrea
49	chr12:4799400-4809000	Weak transcription	Thymus	Thymus
50	chr12:4799400-4809800	Weak transcription	H9 Cell Line	embryonic stem cell

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