Variant report

Variant	rs6489781
Chromosome Location	chr12:121247182-121247183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121238531..121240722-chr12:121246425..121248105,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10160872	0.83[ASN][1000 genomes]
rs1027556	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1039302	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10431387	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10437838	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10744754	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10774568	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774569	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10774571	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10774573	0.83[ASN][1000 genomes]
rs10849786	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849787	0.83[ASN][1000 genomes]
rs10849788	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10849790	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10849793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849800	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10849805	0.85[ASN][1000 genomes]
rs10849806	0.85[ASN][1000 genomes]
rs10849810	0.86[ASN][1000 genomes]
rs10849811	0.84[ASN][1000 genomes]
rs10849813	0.83[ASN][1000 genomes]
rs11065259	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065272	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065298	0.82[ASN][1000 genomes]
rs11065319	0.83[ASN][1000 genomes]
rs11065320	0.83[ASN][1000 genomes]
rs11065321	0.82[ASN][1000 genomes]
rs11065322	0.82[ASN][1000 genomes]
rs11833706	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2049211	0.85[ASN][1000 genomes]
rs2393718	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2393725	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3213568	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3213571	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3809314	0.83[ASN][1000 genomes]
rs56161401	0.83[ASN][1000 genomes]
rs6489780	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6489782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135147	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135426	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7139145	0.84[ASN][1000 genomes]
rs715319	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7298639	0.84[ASN][1000 genomes]
rs7300695	0.83[ASN][1000 genomes]
rs7315439	0.85[ASN][1000 genomes]
rs7316450	0.83[ASN][1000 genomes]
rs73229114	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7960784	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7965332	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7977343	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6489781	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121211400-121260800	Weak transcription	Gastric	stomach
2	chr12:121221000-121250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:121221200-121249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:121222200-121274000	Weak transcription	Lung	lung
5	chr12:121222600-121249200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:121222600-121259000	Weak transcription	Ovary	ovary
7	chr12:121222600-121260800	Weak transcription	Spleen	Spleen
8	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
9	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:121222800-121249400	Weak transcription	HSMM	muscle
11	chr12:121230000-121255200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:121234000-121264200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:121234600-121247200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:121234600-121250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:121234600-121263000	Weak transcription	A549	lung
16	chr12:121234800-121250600	Weak transcription	Fetal Brain Female	brain
17	chr12:121235000-121249600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:121236400-121259000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:121237000-121255400	Weak transcription	Fetal Heart	heart
20	chr12:121237400-121249000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:121237600-121252000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:121237600-121252600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:121237800-121253200	Weak transcription	K562	blood
24	chr12:121237800-121253400	Weak transcription	Psoas Muscle	Psoas
25	chr12:121237800-121255600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:121238000-121248400	Weak transcription	Brain Angular Gyrus	brain
27	chr12:121238000-121249400	Weak transcription	HSMMtube	muscle
28	chr12:121238200-121247400	Weak transcription	Left Ventricle	heart
29	chr12:121238800-121247600	Weak transcription	Fetal Intestine Large	intestine
30	chr12:121238800-121250200	Weak transcription	NH-A	brain
31	chr12:121239000-121249000	Weak transcription	Brain Anterior Caudate	brain
32	chr12:121239200-121247200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:121239200-121247200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:121239200-121247400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:121239200-121251000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:121239200-121252600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:121239200-121252800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:121239200-121255000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:121239200-121260600	Weak transcription	Right Atrium	heart
40	chr12:121239400-121249200	Weak transcription	Brain Substantia Nigra	brain
41	chr12:121239400-121250200	Weak transcription	NHEK	skin
42	chr12:121239400-121253000	Weak transcription	Fetal Kidney	kidney
43	chr12:121239400-121255200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:121239600-121249000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:121239600-121255200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:121239800-121255200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:121240000-121252800	Weak transcription	Fetal Lung	lung
48	chr12:121240600-121248600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:121240800-121250400	Weak transcription	HepG2	liver
50	chr12:121240800-121260800	Weak transcription	Small Intestine	intestine

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