Variant report

Variant	rs2850153
Chromosome Location	chr21:45527460-45527461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45430507..45434109-chr21:45525660..45529122,6	K562	blood:
2	chr21:45429712..45433999-chr21:45522896..45529122,10	K562	blood:
3	chr21:45526020..45528445-chr21:46493573..46495387,2	K562	blood:
4	chr21:45525797..45531105-chr21:45550576..45555096,10	MCF-7	breast:
5	chr21:45525933..45529754-chr21:45756924..45759975,4	MCF-7	breast:
6	chr21:45430262..45433765-chr21:45524105..45528370,12	MCF-7	breast:
7	chr21:45525708..45535025-chr21:45544493..45558414,30	MCF-7	breast:
8	chr21:45527099..45528898-chr21:45545746..45547620,2	MCF-7	breast:
9	chr21:45430220..45433985-chr21:45525454..45528690,3	MCF-7	breast:
10	chr21:45526873..45527551-chr6:26271493..26272199,2	Hela-S3	cervix:
11	chr21:45527359..45530919-chr21:45716038..45721178,5	K562	blood:
12	chr21:45228402..45230320-chr21:45526070..45527844,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1059813	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089111	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089115	0.82[ASN][1000 genomes]
rs1131999	0.84[ASN][1000 genomes]
rs11700840	0.82[ASN][1000 genomes]
rs11700919	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12627239	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13048551	0.82[ASN][1000 genomes]
rs13050630	0.81[ASN][1000 genomes]
rs1858665	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2020945	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2020946	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2039272	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051260	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2071142	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071143	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071146	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071147	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071152	0.85[ASN][1000 genomes]
rs2073432	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2073433	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2073434	0.89[ASN][1000 genomes]
rs2073435	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2156428	0.81[ASN][1000 genomes]
rs2238713	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242950	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242953	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242954	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2243348	0.85[ASN][1000 genomes]
rs2243999	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2245372	0.83[ASN][1000 genomes]
rs2245380	0.81[ASN][1000 genomes]
rs2245386	0.83[ASN][1000 genomes]
rs2245462	0.83[ASN][1000 genomes]
rs2245759	0.85[ASN][1000 genomes]
rs2251267	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255716	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2255922	0.88[AMR][1000 genomes]
rs2276530	0.80[AMR][1000 genomes]
rs2277806	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2299818	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2299820	0.83[ASN][1000 genomes]
rs2329706	0.81[ASN][1000 genomes]
rs2329707	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516519	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516521	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2776368	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838471	0.80[AMR][1000 genomes]
rs2838481	0.81[ASN][1000 genomes]
rs2838482	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2838483	0.81[ASN][1000 genomes]
rs2838485	0.83[ASN][1000 genomes]
rs2838486	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2838488	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838489	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838490	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838491	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838492	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838494	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2838496	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2838498	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2838499	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2838500	0.82[ASN][1000 genomes]
rs2838502	0.82[ASN][1000 genomes]
rs2838503	0.82[ASN][1000 genomes]
rs2850150	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2850155	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2850156	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2850157	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2855651	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2855652	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28859288	0.82[AMR][1000 genomes]
rs35538274	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35610725	0.81[ASN][1000 genomes]
rs4818881	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4819370	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4819372	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4819373	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819376	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819377	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819378	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4819379	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4819381	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4819383	0.82[ASN][1000 genomes]
rs7277269	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7280581	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7281270	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7281291	0.82[ASN][1000 genomes]
rs7281768	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7281778	0.82[AMR][1000 genomes]
rs7283870	0.82[ASN][1000 genomes]
rs756553	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs756554	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs756555	0.81[EUR][1000 genomes]
rs8126564	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8130647	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8132918	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8133422	0.81[AMR][1000 genomes]
rs8133610	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs915878	0.85[ASN][1000 genomes]
rs9306172	0.82[AMR][1000 genomes]
rs9306174	0.83[ASN][1000 genomes]
rs9680179	0.92[ASN][1000 genomes]
rs968714	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9975708	0.83[ASN][1000 genomes]
rs9975978	0.81[AMR][1000 genomes]
rs9977564	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9981485	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv984522	chr21:45514579-45542066	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	esv3322338	chr21:45526049-45528897	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2850153	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45517400-45527600	Weak transcription	Fetal Brain Male	brain
2	chr21:45520200-45527600	Weak transcription	Fetal Heart	heart
3	chr21:45526400-45527800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:45526400-45528000	Active TSS	Brain Anterior Caudate	brain
5	chr21:45526400-45528600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr21:45526400-45528600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr21:45526400-45528600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr21:45526600-45527600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:45526600-45527600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr21:45526600-45527600	Active TSS	Brain Germinal Matrix	brain
11	chr21:45526600-45527600	Active TSS	Fetal Stomach	stomach
12	chr21:45526600-45527600	Active TSS	HUVEC	blood vessel
13	chr21:45526600-45527800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:45526600-45527800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:45526600-45527800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr21:45526600-45527800	Active TSS	Muscle Satellite Cultured Cells	--
17	chr21:45526600-45527800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:45526600-45527800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:45526600-45527800	Active TSS	Brain Cingulate Gyrus	brain
20	chr21:45526600-45527800	Active TSS	Brain Hippocampus Middle	brain
21	chr21:45526600-45527800	Active TSS	Colonic Mucosa	Colon
22	chr21:45526600-45527800	Active TSS	Colon Smooth Muscle	Colon
23	chr21:45526600-45527800	Active TSS	Duodenum Mucosa	Duodenum
24	chr21:45526600-45527800	Active TSS	Fetal Lung	lung
25	chr21:45526600-45527800	Active TSS	Psoas Muscle	Psoas
26	chr21:45526600-45527800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr21:45526600-45527800	Active TSS	Thymus	Thymus
28	chr21:45526600-45527800	Active TSS	GM12878-XiMat	blood
29	chr21:45526600-45527800	Active TSS	Hela-S3	cervix
30	chr21:45526600-45527800	Active TSS	HMEC	breast
31	chr21:45526600-45528000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr21:45526600-45528000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr21:45526600-45528000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:45526600-45528000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr21:45526600-45528000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr21:45526600-45528000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr21:45526600-45528000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:45526600-45528000	Active TSS	Brain Angular Gyrus	brain
39	chr21:45526600-45528000	Active TSS	Fetal Brain Female	brain
40	chr21:45526600-45528000	Active TSS	Fetal Kidney	kidney
41	chr21:45526600-45528000	Active TSS	Ovary	ovary
42	chr21:45526600-45528000	Active TSS	Pancreas	Pancrea
43	chr21:45526600-45528000	Active TSS	HSMM	muscle
44	chr21:45526600-45528000	Active TSS	NHDF-Ad	bronchial
45	chr21:45526600-45528000	Active TSS	NHEK	skin
46	chr21:45526600-45528000	Active TSS	NHLF	lung
47	chr21:45526600-45528000	Active TSS	Osteobl	bone
48	chr21:45526600-45528200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr21:45526600-45528200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr21:45526600-45528200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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