Variant report

Variant	rs2735313
Chromosome Location	chr21:40721611-40721612
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40721258-40722114	HL-60	blood:	n/a	n/a
2	CHD1	chr21:40721439-40721947	GM12878	blood:	n/a	n/a
3	ZNF143	chr21:40721246-40721818	K562	blood:	n/a	chr21:40721364-40721379
4	TAF1	chr21:40721264-40721789	PFSK-1	brain:	n/a	n/a
5	MTA3	chr21:40721256-40722732	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:40720321-40722997	K562	blood:	n/a	n/a
7	SP1	chr21:40721115-40721755	GM12878	blood:	n/a	chr21:40721169-40721179 chr21:40721168-40721180 chr21:40721168-40721180 chr21:40721510-40721521 chr21:40721169-40721179 chr21:40721599-40721609 chr21:40721169-40721178 chr21:40721170-40721179 chr21:40721317-40721338 chr21:40721169-40721178
8	POLR2A	chr21:40721208-40721869	HUVEC	blood vessel:	n/a	n/a
9	RAD21	chr21:40721504-40721684	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBL1XR1	chr21:40721287-40722811	K562	blood:	n/a	n/a
11	PBX3	chr21:40720858-40721941	SK-N-SH	brain:	n/a	n/a
12	MAX	chr21:40721170-40721999	K562	blood:	n/a	n/a
13	MAZ	chr21:40720171-40722416	GM12878	blood:	n/a	n/a
14	POLR2A	chr21:40721252-40721841	SK-N-SH	brain:	n/a	n/a
15	EP300	chr21:40721268-40721657	GM12878	blood:	n/a	n/a
16	TAF1	chr21:40721191-40722259	MCF-7	breast:	n/a	n/a
17	POLR2A	chr21:40720101-40723328	K562	blood:	n/a	n/a
18	ELF1	chr21:40721201-40721782	K562	blood:	n/a	chr21:40721489-40721502
19	TBP	chr21:40721300-40721691	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr21:40720324-40721953	HepG2	liver:	n/a	n/a
21	CCNT2	chr21:40720311-40721747	K562	blood:	n/a	chr21:40721170-40721179
22	POLR2A	chr21:40721178-40722057	GM12878	blood:	n/a	n/a
23	POLR2A	chr21:40719451-40723014	GM12878	blood:	n/a	n/a
24	USF1	chr21:40721038-40721882	HCT-116	colon:	n/a	n/a
25	RELA	chr21:40721271-40721928	GM15510	blood:	n/a	n/a
26	FOXP2	chr21:40721370-40721615	SK-N-MC	brain:	n/a	n/a
27	CREB1	chr21:40721197-40721839	A549	lung:	n/a	n/a
28	REST	chr21:40719476-40722011	H1-neurons	neurons:	n/a	chr21:40721572-40721585 chr21:40721572-40721585
29	POLR2A	chr21:40716164-40723345	K562	blood:	n/a	n/a
30	TEAD4	chr21:40721177-40722666	K562	blood:	n/a	chr21:40722106-40722115
31	POLR2A	chr21:40721200-40721893	HCT-116	colon:	n/a	n/a
32	CBX3	chr21:40721197-40721946	K562	blood:	n/a	n/a
33	ELF1	chr21:40721132-40722351	MCF-7	breast:	n/a	chr21:40721489-40721502
34	TAF1	chr21:40720100-40721872	ECC-1	luminal epithelium:	n/a	n/a
35	ZNF143	chr21:40720426-40721786	GM12878	blood:	n/a	chr21:40721126-40721136 chr21:40721364-40721379
36	YY1	chr21:40721528-40721779	A549	lung:	n/a	n/a
37	RUNX3	chr21:40721206-40721858	GM12878	blood:	n/a	n/a
38	E2F4	chr21:40719770-40721703	MCF10A-Er-Src	breast:	n/a	chr21:40720601-40720612 chr21:40721328-40721337 chr21:40721584-40721593 chr21:40721170-40721179
39	SIN3AK20	chr21:40719291-40722472	MCF-7	breast:	n/a	n/a
40	POLR2A	chr21:40721175-40721873	H1-neurons	neurons:	n/a	n/a
41	EP300	chr21:40721340-40721812	GM12878	blood:	n/a	n/a
42	YY1	chr21:40721333-40722035	K562	blood:	n/a	n/a
43	MXI1	chr21:40719317-40721951	IMR90	lung:	n/a	n/a
44	NFYB	chr21:40720846-40721921	GM12878	blood:	n/a	chr21:40721325-40721339 chr21:40721324-40721339 chr21:40721327-40721337 chr21:40721324-40721339 chr21:40721326-40721341
45	POLR2A	chr21:40719983-40722069	GM12878	blood:	n/a	n/a
46	POLR2A	chr21:40720147-40721849	Hela-S3	cervix:	n/a	n/a
47	SPI1	chr21:40721335-40721928	HL-60	blood:	n/a	n/a
48	POLR2A	chr21:40721305-40721832	HepG2	liver:	n/a	n/a
49	BHLHE40	chr21:40720268-40722040	K562	blood:	n/a	n/a
50	ELF1	chr21:40721183-40721921	K562	blood:	n/a	chr21:40721489-40721502

No.	Distal block	Cell Line	Cell type
1	chr21:40635630..40638349-chr21:40720638..40723544,2	MCF-7	breast:
2	chr11:14541657..14542383-chr21:40721262..40722122,2	NB4	blood:
3	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
4	chr20:49347681..49350459-chr21:40719549..40721947,2	MCF-7	breast:
5	chr21:40720623..40723017-chr21:40815562..40818761,4	K562	blood:
6	chr21:40717517..40723762-chr21:40756232..40761980,18	MCF-7	breast:
7	chr21:40716662..40723444-chr21:40748337..40754328,16	MCF-7	breast:
8	chr21:40719359..40724848-chr21:40748806..40754741,7	MCF-7	breast:
9	chr21:40720444..40722867-chr21:40823306..40826080,2	MCF-7	breast:
10	chr21:40716442..40724032-chr21:40756185..40762223,18	K562	blood:
11	chr21:40719979..40722729-chr21:40816056..40819504,5	MCF-7	breast:
12	chr21:40719750..40724652-chr21:40748317..40754270,9	K562	blood:
13	chr21:40651445..40653004-chr21:40721446..40723113,2	MCF-7	breast:
14	chr21:40717665..40724454-chr21:40756191..40763334,22	MCF-7	breast:
15	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
16	chr21:40719238..40723494-chr21:40813785..40819496,7	MCF-7	breast:
17	chr21:40716961..40722807-chr21:40750720..40754894,10	K562	blood:
18	chr21:40720926..40721630-chr8:71581011..71581760,2	HCT-116	colon:
19	chr21:40719170..40722188-chr21:40780437..40783108,3	MCF-7	breast:
20	chr21:40719410..40723060-chr21:40814028..40819084,9	K562	blood:
21	chr21:40554663..40558370-chr21:40719503..40722190,4	MCF-7	breast:
22	chr16:85043892..85046309-chr21:40720857..40722668,2	MCF-7	breast:
23	chr21:40716079..40725440-chr21:40756737..40764615,26	K562	blood:

Variant related genes	Relation type
ENSG00000238556	TF binding region
HMGN1	TF binding region
ENSG00000256206	Chromatin interaction
ENSG00000153786	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000129084	Chromatin interaction
ENSG00000221947	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000147592	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13433458	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1554933	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2239384	0.83[ASN][1000 genomes]
rs2836990	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836992	0.82[ASN][1000 genomes]
rs28550626	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28629334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3761372	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818027	0.86[ASN][1000 genomes]
rs4818030	0.88[ASN][1000 genomes]
rs7279434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8132324	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9974653	0.81[EUR][1000 genomes]
rs9983270	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9983368	0.80[ASN][1000 genomes]
rs9983594	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3439352	chr21:40719607-40722455	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2735313	WRB	cis	Whole Blood	GTEx
rs2735313	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs2735313	WRB	cis	Thyroid	GTEx
rs2735313	LCA5L	cis	Nerve Tibial	GTEx
rs2735313	WRB	cis	Adipose Subcutaneous	GTEx
rs2735313	WRB	cis	Artery Tibial	GTEx
rs2735313	WRB	cis	Nerve Tibial	GTEx
rs2735313	WRB	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40718800-40721800	Active TSS	Fetal Intestine Large	intestine
2	chr21:40718800-40721800	Active TSS	Fetal Intestine Small	intestine
3	chr21:40718800-40722000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:40718800-40722200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr21:40718800-40722200	Active TSS	GM12878-XiMat	blood
6	chr21:40719000-40722200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr21:40719000-40722400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:40719200-40722000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr21:40719200-40722000	Active TSS	Fetal Brain Female	brain
10	chr21:40719200-40722000	Active TSS	HSMM	muscle
11	chr21:40719200-40722000	Active TSS	HSMMtube	muscle
12	chr21:40719200-40722200	Active TSS	Fetal Kidney	kidney
13	chr21:40719200-40722400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:40719200-40722800	Active TSS	Hela-S3	cervix
15	chr21:40719400-40721800	Active TSS	Ovary	ovary
16	chr21:40719400-40721800	Active TSS	Right Ventricle	heart
17	chr21:40719400-40722000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:40719400-40722200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:40719400-40722200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:40719400-40722400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr21:40719400-40722600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:40719600-40721800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:40719600-40721800	Active TSS	Pancreas	Pancrea
24	chr21:40719600-40721800	Active TSS	NH-A	brain
25	chr21:40719600-40721800	Active TSS	NHLF	lung
26	chr21:40719600-40722000	Active TSS	Esophagus	oesophagus
27	chr21:40719600-40722000	Active TSS	Gastric	stomach
28	chr21:40719600-40722000	Active TSS	Left Ventricle	heart
29	chr21:40719600-40722000	Active TSS	Lung	lung
30	chr21:40719600-40722000	Active TSS	Placenta Amnion	Placenta Amnion
31	chr21:40719600-40722200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:40719600-40722200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr21:40719600-40722200	Bivalent/Poised TSS	HepG2	liver
34	chr21:40719600-40722400	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr21:40719800-40721800	Active TSS	Aorta	Aorta
36	chr21:40719800-40721800	Active TSS	Colon Smooth Muscle	Colon
37	chr21:40719800-40721800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr21:40719800-40721800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr21:40719800-40721800	Active TSS	Fetal Thymus	thymus
40	chr21:40719800-40722000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr21:40719800-40722000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr21:40719800-40722000	Active TSS	Brain Angular Gyrus	brain
43	chr21:40719800-40722000	Active TSS	Duodenum Mucosa	Duodenum
44	chr21:40719800-40722000	Active TSS	Psoas Muscle	Psoas
45	chr21:40719800-40722000	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr21:40719800-40722000	Active TSS	Small Intestine	intestine
47	chr21:40719800-40722000	Active TSS	NHDF-Ad	bronchial
48	chr21:40719800-40722000	Active TSS	NHEK	skin
49	chr21:40719800-40722200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr21:40719800-40722200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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