Variant report

Variant	rs2250389
Chromosome Location	chr10:50020323-50020324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50018526..50021577-chr10:50026027..50031410,4	MCF-7	breast:
2	chr10:50016415..50019036-chr10:50020234..50023570,4	MCF-7	breast:
3	chr10:50000720..50003091-chr10:50019887..50021986,2	MCF-7	breast:
4	chr10:50009310..50017840-chr10:50018505..50026491,17	MCF-7	breast:
5	chr10:50019507..50021681-chr10:50026930..50029178,2	K562	blood:

Variant related genes	Relation type
ENSG00000128815	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10745284	0.81[EUR][1000 genomes]
rs10776647	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10776648	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10857655	0.91[ASN][1000 genomes]
rs11101511	0.97[ASN][1000 genomes]
rs11101529	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11101530	0.91[ASN][1000 genomes]
rs11101531	0.91[ASN][1000 genomes]
rs11101532	0.91[ASN][1000 genomes]
rs1904596	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1904604	0.81[EUR][1000 genomes]
rs1904605	0.81[EUR][1000 genomes]
rs2002587	0.91[ASN][1000 genomes]
rs2002588	0.91[ASN][1000 genomes]
rs2127592	0.81[EUR][1000 genomes]
rs2448539	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2448540	0.91[ASN][1000 genomes]
rs2448545	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2457214	0.91[ASN][1000 genomes]
rs2620882	0.81[EUR][1000 genomes]
rs2620883	0.81[EUR][1000 genomes]
rs2620884	0.81[EUR][1000 genomes]
rs2620885	0.81[EUR][1000 genomes]
rs2620891	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2620893	0.81[EUR][1000 genomes]
rs2620896	0.97[ASN][1000 genomes]
rs2620898	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2620904	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2620907	0.81[EUR][1000 genomes]
rs2663051	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2663052	0.81[EUR][1000 genomes]
rs2928404	0.80[EUR][1000 genomes]
rs2940727	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2940728	0.81[EUR][1000 genomes]
rs35932562	0.91[ASN][1000 genomes]
rs3747872	0.91[ASN][1000 genomes]
rs3747873	0.91[ASN][1000 genomes]
rs3747874	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3747875	0.91[ASN][1000 genomes]
rs3747877	0.91[ASN][1000 genomes]
rs3860188	0.91[ASN][1000 genomes]
rs3860189	0.90[ASN][1000 genomes]
rs3860190	0.91[ASN][1000 genomes]
rs6537580	0.91[ASN][1000 genomes]
rs7079766	0.91[ASN][1000 genomes]
rs7093474	0.91[ASN][1000 genomes]
rs7913005	0.88[ASN][1000 genomes]
rs7919656	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs877819	0.91[ASN][1000 genomes]
rs877820	0.91[ASN][1000 genomes]
rs877821	0.90[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50005200-50026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:50009600-50028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:50013200-50023800	Strong transcription	GM12878-XiMat	blood
4	chr10:50013600-50028200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr10:50013600-50061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:50014200-50030000	Weak transcription	Right Atrium	heart
7	chr10:50014600-50020800	Strong transcription	Primary hematopoietic stem cells	blood
8	chr10:50014600-50021800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:50014800-50020600	Weak transcription	Adipose Nuclei	Adipose
10	chr10:50014800-50020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:50014800-50020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:50015000-50023000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr10:50015200-50063400	Strong transcription	Primary B cells from cord blood	blood
14	chr10:50015600-50023200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:50015600-50029800	Weak transcription	Gastric	stomach
16	chr10:50016200-50063000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr10:50016200-50063000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr10:50016600-50022800	Strong transcription	Spleen	Spleen
19	chr10:50016600-50062400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:50017000-50022600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:50017600-50023600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:50017800-50022000	Weak transcription	Lung	lung
23	chr10:50018400-50021200	Enhancers	Fetal Muscle Trunk	muscle
24	chr10:50018800-50020400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:50019400-50029000	Weak transcription	Primary T cells from cord blood	blood
26	chr10:50019800-50020600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:50020000-50020400	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:50020000-50020400	Weak transcription	Left Ventricle	heart
29	chr10:50020000-50052000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr10:50020200-50022800	Weak transcription	NHEK	skin
31	chr10:50020200-50023200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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