Variant report

Variant	rs8131091
Chromosome Location	chr21:40635009-40635010
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40629267..40631101-chr21:40633263..40636157,2	K562	blood:
2	chr21:40633679..40635418-chr21:40692095..40693718,2	MCF-7	breast:
3	chr21:40631221..40636644-chr21:40641722..40645540,5	MCF-7	breast:
4	chr21:40629126..40631101-chr21:40634657..40636859,2	K562	blood:
5	chr21:40632394..40633950-chr21:40634742..40636746,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185658	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1011413	0.87[ASN][1000 genomes]
rs10154057	0.87[EUR][1000 genomes]
rs10154217	0.82[ASN][1000 genomes]
rs1041439	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11702268	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11910971	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11911822	0.85[ASN][1000 genomes]
rs12626405	0.86[ASN][1000 genomes]
rs13050247	0.93[EUR][1000 genomes]
rs13050584	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13051430	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1541100	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541101	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1888487	0.83[ASN][1000 genomes]
rs1963742	0.83[ASN][1000 genomes]
rs1984748	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2026266	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2070867	0.81[ASN][1000 genomes]
rs2142117	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2150410	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2150412	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2183574	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2183575	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2183576	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2225425	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2236437	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2272576	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2272577	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272578	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2297258	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2410104	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2410121	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776310	0.81[ASN][1000 genomes]
rs2836969	0.87[ASN][1000 genomes]
rs2836971	0.87[ASN][1000 genomes]
rs2836975	0.86[ASN][1000 genomes]
rs2836982	0.81[ASN][1000 genomes]
rs28399794	0.82[EUR][1000 genomes]
rs35909862	0.86[ASN][1000 genomes]
rs3746885	0.86[ASN][1000 genomes]
rs3746886	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs383967	0.93[EUR][1000 genomes]
rs391062	0.93[EUR][1000 genomes]
rs413078	0.93[EUR][1000 genomes]
rs425988	0.93[EUR][1000 genomes]
rs444130	0.93[EUR][1000 genomes]
rs452776	0.93[EUR][1000 genomes]
rs4816619	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4816620	0.87[ASN][1000 genomes]
rs4816623	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818004	0.80[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4818005	0.84[ASN][1000 genomes]
rs4818006	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818007	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818011	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818012	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818014	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818015	0.84[ASN][1000 genomes]
rs55885019	0.87[EUR][1000 genomes]
rs56151678	0.83[EUR][1000 genomes]
rs6517520	0.93[EUR][1000 genomes]
rs6517524	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517525	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517529	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6517530	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6517531	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517532	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517534	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6517535	0.87[ASN][1000 genomes]
rs6517536	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517537	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517540	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6517541	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6650847	0.93[EUR][1000 genomes]
rs66519408	0.93[EUR][1000 genomes]
rs66746936	0.93[EUR][1000 genomes]
rs67212994	0.93[EUR][1000 genomes]
rs67382266	0.87[EUR][1000 genomes]
rs67649754	0.93[EUR][1000 genomes]
rs68069991	0.87[EUR][1000 genomes]
rs68086041	0.87[EUR][1000 genomes]
rs68114370	0.93[EUR][1000 genomes]
rs718225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719230	0.84[ASN][1000 genomes]
rs726046	0.82[ASN][1000 genomes]
rs7275773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7276559	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7276698	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7276774	0.87[ASN][1000 genomes]
rs7278985	0.87[ASN][1000 genomes]
rs7280149	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7281853	0.81[ASN][1000 genomes]
rs7282029	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7282724	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7282947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7283439	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7283652	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127537	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8128118	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8129847	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8130099	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8130774	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8131067	0.89[ASN][1000 genomes]
rs8131150	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8131263	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8131307	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8132230	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs914157	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs971229	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997147	0.81[ASN][1000 genomes]
rs9974757	0.87[ASN][1000 genomes]
rs9975410	0.87[EUR][1000 genomes]
rs9975614	0.90[EUR][1000 genomes]
rs9978591	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9978775	0.81[ASN][1000 genomes]
rs9978953	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9979547	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9981656	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9982111	0.86[ASN][1000 genomes]
rs9982122	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:127 , 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	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:40565400-40653600	Strong transcription	Dnd41	blood
9	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:40572000-40636800	Weak transcription	Psoas Muscle	Psoas
11	chr21:40581400-40635400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr21:40582800-40654000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr21:40593400-40650800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr21:40597200-40635600	Weak transcription	Fetal Heart	heart
15	chr21:40603200-40653400	Weak transcription	Right Atrium	heart
16	chr21:40608400-40638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:40608400-40667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:40608600-40636400	Weak transcription	Aorta	Aorta
19	chr21:40609800-40635400	Weak transcription	Fetal Brain Male	brain
20	chr21:40613400-40652000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr21:40613800-40651000	Strong transcription	Fetal Thymus	thymus
22	chr21:40614000-40654400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:40614600-40654200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:40614800-40652400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr21:40615800-40639800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr21:40616400-40651800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr21:40617400-40635200	Weak transcription	Colonic Mucosa	Colon
28	chr21:40618000-40659200	Weak transcription	Stomach Mucosa	stomach
29	chr21:40618400-40635400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr21:40619000-40638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr21:40619400-40656200	Weak transcription	Ovary	ovary
32	chr21:40619600-40635800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr21:40619600-40660200	Weak transcription	Brain Angular Gyrus	brain
34	chr21:40620000-40635200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr21:40620000-40640400	Weak transcription	A549	lung
36	chr21:40620200-40636800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr21:40620400-40635400	Weak transcription	HUVEC	blood vessel
38	chr21:40620800-40636800	Weak transcription	Spleen	Spleen
39	chr21:40622400-40635200	Weak transcription	Brain Substantia Nigra	brain
40	chr21:40622400-40636400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr21:40624000-40642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:40625000-40644000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr21:40625400-40643600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr21:40625800-40639200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr21:40625800-40652400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr21:40626200-40653400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr21:40626400-40637200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr21:40626800-40654000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:40627200-40641600	Strong transcription	Fetal Muscle Leg	muscle
50	chr21:40627800-40640200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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