Variant report

Variant	rs8128102
Chromosome Location	chr21:40606414-40606415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40602448..40605045-chr21:40605736..40607319,2	K562	blood:
2	chr21:40605137..40607837-chr21:40613025..40614570,2	MCF-7	breast:
3	chr21:40604601..40607063-chr21:40608488..40609991,2	MCF-7	breast:

Extended variants
information (count: 147 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs1041440	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10427502	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1065242	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11088471	0.83[YRI][hapmap]
rs11910151	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11911112	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11911149	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12151994	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12481860	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12482156	0.82[EUR][1000 genomes]
rs12482181	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12482857	0.82[EUR][1000 genomes]
rs12483216	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12710453	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12710454	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13047550	0.82[EUR][1000 genomes]
rs13048178	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13049280	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13052882	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13339986	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13625	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs14194	0.91[CEU][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1541102	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1571709	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1888488	0.82[YRI][hapmap]
rs1984022	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2026265	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2026267	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs2037925	0.82[YRI][hapmap]
rs2142111	0.83[YRI][hapmap]
rs2150413	0.85[YRI][hapmap]
rs2150414	0.85[YRI][hapmap]
rs2150415	0.95[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2234543	0.96[CEU][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2410123	0.92[YRI][hapmap]
rs2735306	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs2735309	0.82[AMR][1000 genomes]
rs2776307	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs2776308	0.82[AMR][1000 genomes]
rs2776309	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs28360661	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836920	0.84[CEU][hapmap]
rs2836921	0.82[EUR][1000 genomes]
rs2836923	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2836924	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2836925	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2836927	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2836928	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2836929	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2836932	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2836933	1.00[CEU][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836938	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836944	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836953	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2836955	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836956	0.85[YRI][hapmap]
rs2836957	0.96[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836958	0.85[YRI][hapmap]
rs2836964	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836965	0.96[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836967	0.96[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836968	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836972	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836973	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2836974	0.96[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2836977	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2836981	0.81[YRI][hapmap]
rs2836982	0.81[YRI][hapmap]
rs2836986	0.86[YRI][hapmap]
rs2836987	0.92[YRI][hapmap]
rs2836988	0.82[YRI][hapmap]
rs34035316	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34176878	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34294410	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34394827	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34433511	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34478864	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34578707	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34592564	0.82[EUR][1000 genomes]
rs34672724	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34978594	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35064900	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35068861	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35123057	0.82[AMR][1000 genomes]
rs35386515	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35391055	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35560196	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35571600	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774464	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36113648	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3945	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs428602	0.83[YRI][hapmap]
rs4624474	0.82[YRI][hapmap]
rs4817996	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55836299	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56049536	0.89[AMR][1000 genomes]
rs56306759	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517513	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6517514	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6517519	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6517521	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6517523	0.96[CEU][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517526	0.96[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517527	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517533	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517538	0.96[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66465538	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68004583	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68090597	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71184665	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7277978	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7278297	0.83[YRI][hapmap]
rs7280375	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7281853	0.81[YRI][hapmap]
rs7282624	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7283420	0.88[EUR][1000 genomes]
rs7283516	0.92[CEU][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7283569	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73221174	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73221193	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7354783	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8127087	1.00[CEU][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8128026	1.00[CEU][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8128191	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8128620	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8128734	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8128827	0.82[AMR][1000 genomes]
rs8128894	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8129147	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8129303	0.82[AMR][1000 genomes]
rs8129355	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129416	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8130556	0.81[EUR][1000 genomes]
rs8130984	0.96[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8131965	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8132285	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs8132295	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8132333	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8132419	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8132568	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8133146	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8134733	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9941894	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.89[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	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv587481	chr21:40598721-40627020	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8128102	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs8128102	PSMG1	cis	Muscle Skeletal	GTEx
rs8128102	PSMG1	cis	lung	GTEx
rs8128102	DSCR2	cis	uninvolved skin	skin_eQTL
rs8128102	DSCR2	cis	normal skin	skin_eQTL
rs8128102	PSMG1	cis	Esophagus Mucosa	GTEx
rs8128102	HMGN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
2	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:40564600-40612600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:40565400-40612600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr21:40565400-40653600	Strong transcription	Dnd41	blood
11	chr21:40565600-40615000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:40566400-40613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:40569800-40607800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:40572000-40636800	Weak transcription	Psoas Muscle	Psoas
16	chr21:40573800-40631000	Weak transcription	Small Intestine	intestine
17	chr21:40578000-40607600	Weak transcription	Aorta	Aorta
18	chr21:40578600-40608000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr21:40578800-40606600	Weak transcription	Brain Substantia Nigra	brain
20	chr21:40580600-40607600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:40580800-40607200	Weak transcription	Spleen	Spleen
22	chr21:40581400-40635400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr21:40581800-40607200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:40582200-40614200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr21:40582600-40622000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr21:40582800-40654000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr21:40583600-40606800	Weak transcription	NHLF	lung
28	chr21:40588800-40607800	Weak transcription	Right Ventricle	heart
29	chr21:40590200-40607200	Weak transcription	NHEK	skin
30	chr21:40590200-40607600	Weak transcription	Brain Hippocampus Middle	brain
31	chr21:40590200-40608000	Weak transcription	Stomach Mucosa	stomach
32	chr21:40590600-40607400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr21:40591200-40621600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr21:40591200-40622200	Strong transcription	Liver	Liver
35	chr21:40591400-40625200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr21:40592000-40622400	Strong transcription	K562	blood
37	chr21:40593400-40607200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:40593400-40613400	Strong transcription	Fetal Thymus	thymus
39	chr21:40593400-40650800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr21:40593600-40613200	Strong transcription	Primary T cells from cord blood	blood
41	chr21:40594200-40612200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr21:40594400-40606600	Weak transcription	A549	lung
43	chr21:40594400-40607800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr21:40595800-40624000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr21:40596000-40606600	Weak transcription	Colon Smooth Muscle	Colon
46	chr21:40596200-40607200	Weak transcription	Pancreas	Pancrea
47	chr21:40596200-40607400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:40596200-40614200	Weak transcription	Brain Angular Gyrus	brain
49	chr21:40596600-40612400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr21:40596800-40607400	Weak transcription	Placenta Amnion	Placenta Amnion

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