Variant report

Variant	rs67871557
Chromosome Location	chr12:4807321-4807322
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11063307	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809178	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809919	0.85[EUR][1000 genomes]
rs12816272	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817218	1.00[ASN][1000 genomes]
rs12821116	1.00[ASN][1000 genomes]
rs12827952	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831221	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931649	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701871	1.00[ASN][1000 genomes]
rs2286579	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34205979	1.00[ASN][1000 genomes]
rs34214125	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34310347	0.84[EUR][1000 genomes]
rs34337517	1.00[ASN][1000 genomes]
rs34475613	1.00[ASN][1000 genomes]
rs34502100	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34765166	1.00[ASN][1000 genomes]
rs34947765	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34952740	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35016874	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35288424	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35464779	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35562639	1.00[ASN][1000 genomes]
rs35715089	0.90[EUR][1000 genomes]
rs35878255	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35899818	1.00[ASN][1000 genomes]
rs35925396	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766273	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007510	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760751	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59096706	1.00[ASN][1000 genomes]
rs59986414	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66703365	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68144469	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459918	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038876	1.00[ASN][1000 genomes]
rs7306593	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960763	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[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:80 , 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	chr12:4792600-4809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:4795000-4810000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:4797000-4811000	Weak transcription	Small Intestine	intestine
6	chr12:4797400-4807400	Weak transcription	GM12878-XiMat	blood
7	chr12:4797400-4809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:4797400-4809800	Weak transcription	NH-A	brain
9	chr12:4797600-4807800	Weak transcription	Brain Substantia Nigra	brain
10	chr12:4797600-4809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:4797600-4809800	Weak transcription	Gastric	stomach
12	chr12:4797600-4809800	Weak transcription	Right Ventricle	heart
13	chr12:4797600-4809800	Weak transcription	NHLF	lung
14	chr12:4797600-4810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:4797600-4810800	Weak transcription	HepG2	liver
16	chr12:4797800-4809600	Weak transcription	Fetal Brain Male	brain
17	chr12:4797800-4809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:4797800-4809800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:4797800-4810200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:4797800-4810600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:4798000-4808000	Weak transcription	Psoas Muscle	Psoas
22	chr12:4798000-4809200	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:4798000-4809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:4798000-4809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:4798000-4809800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:4798000-4810000	Weak transcription	Ovary	ovary
27	chr12:4798000-4811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:4798000-4813400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:4798000-4814200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:4798200-4810800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:4798400-4809800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:4798400-4817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:4799200-4809800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:4799400-4809000	Weak transcription	Thymus	Thymus
35	chr12:4799400-4809800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:4799400-4809800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:4799400-4809800	Weak transcription	Aorta	Aorta
38	chr12:4799400-4810600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:4799400-4811000	Weak transcription	Spleen	Spleen
40	chr12:4799400-4811200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:4799400-4811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:4799400-4812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:4799600-4809800	Weak transcription	Brain Anterior Caudate	brain
44	chr12:4799600-4811400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:4799600-4826800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:4799800-4810000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:4799800-4810800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:4799800-4811200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:4800200-4809800	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:4800200-4811200	Weak transcription	Fetal Intestine Small	intestine

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