Variant report

Variant	rs11129317
Chromosome Location	chr3:28312835-28312836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10510606	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11129312	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11129313	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11129314	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11708368	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11708635	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11717202	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11921526	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12106806	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12107556	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12485853	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12485858	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12497510	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13069450	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13069777	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13073936	0.90[EUR][1000 genomes]
rs13074515	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13085236	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13085477	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13092179	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1606391	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34109684	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34692982	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35504778	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35813951	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680746	0.91[EUR][1000 genomes]
rs6782956	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6785465	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6792110	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6792215	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6798266	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7624015	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7624111	0.87[EUR][1000 genomes];0.88[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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28284000-28313800	Weak transcription	Ovary	ovary
2	chr3:28284000-28317200	Weak transcription	Gastric	stomach
3	chr3:28284400-28321800	Weak transcription	NHLF	lung
4	chr3:28285600-28315400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:28287600-28317000	Weak transcription	Pancreas	Pancrea
6	chr3:28294200-28314400	Weak transcription	HepG2	liver
7	chr3:28294400-28313800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:28294400-28314200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:28294600-28313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:28294800-28313800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:28294800-28316400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:28295600-28313800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:28295600-28318200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:28300000-28313800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:28301000-28313800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:28301800-28314000	Weak transcription	Brain Angular Gyrus	brain
17	chr3:28302200-28313800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:28302600-28313800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:28303000-28314600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr3:28303000-28316800	Weak transcription	Right Ventricle	heart
21	chr3:28303400-28322200	Weak transcription	Small Intestine	intestine
22	chr3:28303600-28313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:28303600-28340600	Weak transcription	NHEK	skin
24	chr3:28303800-28320800	Weak transcription	Placenta	Placenta
25	chr3:28304000-28313000	Weak transcription	Fetal Kidney	kidney
26	chr3:28304000-28314000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:28304200-28313800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:28304200-28332400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:28304600-28313200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:28304600-28313800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:28305600-28322600	Weak transcription	Osteobl	bone
32	chr3:28305800-28313400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:28306200-28314000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:28306200-28316600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:28306400-28313600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:28306400-28332400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:28306600-28313600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:28306600-28313800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:28306600-28335800	Weak transcription	Hela-S3	cervix
40	chr3:28307400-28313200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:28307400-28313800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:28307400-28317400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:28307600-28313800	Weak transcription	GM12878-XiMat	blood
44	chr3:28307600-28314000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:28307600-28314600	Weak transcription	A549	lung
46	chr3:28307600-28317000	Weak transcription	Fetal Thymus	thymus
47	chr3:28308600-28315200	Weak transcription	K562	blood
48	chr3:28309000-28313400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:28309000-28336600	Weak transcription	HUVEC	blood vessel
50	chr3:28309400-28317000	Weak transcription	HSMM	muscle

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