Variant report

Variant	rs2410124
Chromosome Location	chr21:40704760-40704761
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	21:40553066-40557191..21:40702099-40712819	K562	blood:
2	chr21:40651197..40652738-chr21:40703332..40705694,2	K562	blood:
3	21:40702099-40712819..21:40757151-40764378	K562	blood:

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000272991	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1011413	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10154217	0.82[ASN][1000 genomes]
rs11088471	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11088472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11702505	0.85[AFR][1000 genomes]
rs11910705	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11910906	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11911822	0.90[AMR][1000 genomes]
rs12626405	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1882779	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1888487	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1888488	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1963676	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2005933	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2037925	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183573	0.83[AMR][1000 genomes]
rs2410123	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836969	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836971	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836975	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836981	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836982	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836985	0.83[AFR][1000 genomes]
rs2836986	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836987	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836988	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34240248	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34436313	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35182074	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35909862	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs371625	0.81[AMR][1000 genomes]
rs377098	0.81[AMR][1000 genomes]
rs418298	0.81[AMR][1000 genomes]
rs418359	0.81[AMR][1000 genomes]
rs419469	0.83[AMR][1000 genomes]
rs428602	0.80[AMR][1000 genomes]
rs442972	0.81[AMR][1000 genomes]
rs452377	0.81[AMR][1000 genomes]
rs4624474	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4816620	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4816623	0.83[ASN][1000 genomes]
rs4818005	0.87[AMR][1000 genomes]
rs4818015	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4818017	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61300849	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62223052	0.85[AFR][1000 genomes]
rs6517535	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6517540	0.80[ASN][1000 genomes]
rs6517541	0.80[ASN][1000 genomes]
rs719230	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7276774	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7278985	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7279558	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7280326	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281853	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7282604	0.81[AMR][1000 genomes]
rs8127986	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8130795	0.81[AMR][1000 genomes]
rs8130854	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9636957	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs997147	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9974757	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9975119	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9975562	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9975614	0.85[ASN][1000 genomes]
rs9978775	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9979483	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9981301	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9981656	0.83[ASN][1000 genomes]
rs9982111	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[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	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv587482	chr21:40684427-40706594	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv587483	chr21:40686327-40718161	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2410124	BRWD1	Cis_1M	lymphoblastoid	RTeQTL
rs2410124	PSMG1	cis	Esophagus Mucosa	GTEx
rs2410124	PSMG1	cis	Artery Tibial	GTEx
rs2410124	PSMG1	cis	lung	GTEx
rs2410124	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40692400-40718400	Weak transcription	Right Atrium	heart
2	chr21:40699200-40712600	Weak transcription	Fetal Muscle Leg	muscle
3	chr21:40703000-40704800	Enhancers	Placenta	Placenta
4	chr21:40703800-40704800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr21:40703800-40704800	Enhancers	Fetal Heart	heart
6	chr21:40703800-40704800	Enhancers	HepG2	liver
7	chr21:40704000-40719600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:40704200-40712800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr21:40704200-40712800	Weak transcription	A549	lung
10	chr21:40704200-40713200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:40704400-40712200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr21:40704400-40712600	Weak transcription	Fetal Intestine Large	intestine
13	chr21:40704400-40712800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr21:40704400-40713000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr21:40704400-40713000	Weak transcription	Fetal Intestine Small	intestine
16	chr21:40704400-40713200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr21:40704400-40713400	Weak transcription	Hela-S3	cervix
18	chr21:40704400-40715000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr21:40704400-40715200	Weak transcription	Spleen	Spleen
20	chr21:40704600-40705000	Enhancers	K562	blood
21	chr21:40704600-40708400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr21:40704600-40712600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:40704600-40712600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr21:40704600-40712600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr21:40704600-40712600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr21:40704600-40712800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr21:40704600-40712800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:40704600-40712800	Weak transcription	Left Ventricle	heart
29	chr21:40704600-40712800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr21:40704600-40713200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:40704600-40713200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr21:40704600-40713800	Weak transcription	Ovary	ovary
33	chr21:40704600-40717200	Weak transcription	Right Ventricle	heart
34	chr21:40704600-40719600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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