Variant report

Variant	rs2819033
Chromosome Location	chr10:43904919-43904920
allele	C/T
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	ZKSCAN1	chr10:43904202-43905217	Hela-S3	cervix:	n/a	n/a
2	PAX5	chr10:43904072-43905380	GM12878	blood:	n/a	n/a
3	STAT1	chr10:43904187-43905069	GM12878	blood:	n/a	chr10:43904760-43904772
4	CEBPB	chr10:43904889-43905183	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr10:43902185-43905112	HepG2	liver:	n/a	chr10:43904301-43904316
6	TBL1XR1	chr10:43904234-43905166	K562	blood:	n/a	n/a
7	EGR1	chr10:43904036-43904966	K562	blood:	n/a	chr10:43904316-43904326 chr10:43904666-43904680 chr10:43904665-43904678 chr10:43904670-43904680 chr10:43904665-43904678 chr10:43904767-43904780
8	POLR2A	chr10:43901067-43905573	HL-60	blood:	n/a	n/a
9	EP300	chr10:43904153-43905133	GM12878	blood:	n/a	chr10:43904974-43904988 chr10:43904661-43904677 chr10:43904975-43904984
10	RAD21	chr10:43904868-43905112	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr10:43902599-43905102	Hela-S3	cervix:	n/a	chr10:43904301-43904316
12	MYC	chr10:43904195-43905046	K562	blood:	n/a	chr10:43904307-43904316 chr10:43904402-43904411
13	IRF1	chr10:43902895-43905077	K562	blood:	n/a	chr10:43904331-43904345 chr10:43904091-43904105 chr10:43904518-43904532 chr10:43904669-43904683 chr10:43904347-43904361 chr10:43903277-43903291
14	MAX	chr10:43902163-43905172	K562	blood:	n/a	chr10:43904307-43904316 chr10:43903332-43903343 chr10:43903333-43903342 chr10:43904402-43904411 chr10:43903767-43903774
15	TAF1	chr10:43904198-43904927	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr10:43904114-43905143	A549	lung:	n/a	n/a
17	POLR2A	chr10:43901131-43905953	HepG2	liver:	n/a	n/a
18	JUN	chr10:43902090-43905336	K562	blood:	n/a	chr10:43902652-43902661 chr10:43904977-43904986
19	SMARCB1	chr10:43902578-43905702	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr10:43902530-43905094	HepG2	liver:	n/a	n/a
21	SETDB1	chr10:43903129-43905501	K562	blood:	n/a	chr10:43904422-43904446
22	POLR2A	chr10:43904104-43905590	MCF-7	breast:	n/a	n/a
23	POLR2A	chr10:43904167-43905132	HepG2	liver:	n/a	n/a
24	MAX	chr10:43904111-43905290	SK-N-SH	brain:	n/a	chr10:43904307-43904316 chr10:43904402-43904411
25	PBX3	chr10:43904157-43905187	A549	lung:	n/a	n/a
26	POLR2A	chr10:43902517-43905565	GM12891	blood:	n/a	n/a
27	YY1	chr10:43904481-43905066	HCT-116	colon:	n/a	chr10:43904638-43904649 chr10:43904754-43904768 chr10:43904670-43904679
28	TAF1	chr10:43904122-43905030	K562	blood:	n/a	n/a
29	SIN3AK20	chr10:43902854-43905693	HCT-116	colon:	n/a	n/a
30	POLR2A	chr10:43901150-43905187	K562	blood:	n/a	n/a
31	E2F6	chr10:43902545-43905260	K562	blood:	n/a	chr10:43903002-43903012 chr10:43904863-43904870 chr10:43902697-43902708 chr10:43904932-43904949 chr10:43904863-43904870 chr10:43902678-43902688 chr10:43902908-43902920 chr10:43902675-43902685 chr10:43904863-43904870 chr10:43904730-43904745 chr10:43904670-43904679
32	RCOR1	chr10:43904327-43905193	GM12878	blood:	n/a	n/a
33	CTCF	chr10:43904880-43905170	GM12871	blood:	n/a	n/a
34	POLR2A	chr10:43900942-43905753	GM12878	blood:	n/a	n/a
35	MAX	chr10:43902831-43905956	HCT-116	colon:	n/a	chr10:43904307-43904316 chr10:43903332-43903343 chr10:43903333-43903342 chr10:43904402-43904411 chr10:43903767-43903774
36	POLR2A	chr10:43904827-43905033	HepG2	liver:	n/a	n/a
37	BHLHE40	chr10:43904252-43905106	HepG2	liver:	n/a	n/a
38	POLR2A	chr10:43902445-43905122	GM12891	blood:	n/a	n/a
39	MAX	chr10:43903121-43905142	K562	blood:	n/a	chr10:43904307-43904316 chr10:43903332-43903343 chr10:43903333-43903342 chr10:43904402-43904411 chr10:43903767-43903774
40	E2F1	chr10:43904147-43905474	Hela-S3	cervix:	n/a	chr10:43904863-43904870 chr10:43904932-43904949 chr10:43904863-43904870 chr10:43904863-43904870 chr10:43904730-43904745 chr10:43904670-43904679
41	MAX	chr10:43902453-43905428	A549	lung:	n/a	chr10:43904307-43904316 chr10:43903332-43903343 chr10:43903333-43903342 chr10:43904402-43904411 chr10:43903767-43903774
42	RELA	chr10:43904117-43905010	GM19193	blood:	n/a	chr10:43904311-43904320 chr10:43904311-43904320
43	POLR2A	chr10:43902392-43905656	GM12892	blood:	n/a	n/a
44	MYC	chr10:43904186-43905144	MCF-7	breast:	n/a	chr10:43904307-43904316 chr10:43904402-43904411
45	POLR2A	chr10:43904098-43905141	A549	lung:	n/a	n/a
46	POLR2A	chr10:43900620-43906464	MCF10A-Er-Src	breast:	n/a	n/a
47	RCOR1	chr10:43904177-43905520	Hela-S3	cervix:	n/a	n/a
48	TBP	chr10:43904229-43905070	GM12878	blood:	n/a	n/a
49	YY1	chr10:43903948-43905342	GM12892	blood:	n/a	chr10:43904329-43904343 chr10:43904638-43904649 chr10:43904754-43904768 chr10:43904670-43904679
50	TCF12	chr10:43902929-43905010	ECC-1	luminal epithelium:	n/a	chr10:43903008-43903018

No.	Distal block	Cell Line	Cell type
1	chr10:43867647..43875264-chr10:43900659..43906151,11	MCF-7	breast:
2	chr10:43904301..43905147-chr12:54674227..54674856,2	Hela-S3	cervix:
3	chr10:43902834..43905281-chr10:44101183..44103050,2	MCF-7	breast:
4	chr10:43904720..43905397-chr10:43951179..43951725,2	MCF-7	breast:
5	chr10:43901370..43906375-chr10:43928042..43934083,16	MCF-7	breast:
6	chr10:43904236..43905126-chr5:159826772..159827368,2	Hela-S3	cervix:
7	chr10:43904622..43905510-chr18:30050330..30050885,2	Hela-S3	cervix:
8	chr10:43901784..43908257-chr10:43928243..43934263,17	MCF-7	breast:
9	chr10:43899870..43905980-chr10:43953401..43957689,7	MCF-7	breast:
10	chr10:43902635..43905319-chr11:65265113..65267204,2	K562	blood:
11	chr10:43904206..43905019-chr8:95731706..95732274,2	HCT-116	colon:
12	chr10:43904675..43905601-chr2:85133815..85134604,2	Hela-S3	cervix:
13	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
14	chr1:156307804..156308468-chr10:43904566..43905506,2	Hela-S3	cervix:
15	chr10:43696835..43700131-chr10:43902185..43905182,4	K562	blood:
16	chr10:43902596..43905009-chr12:7053130..7055096,2	K562	blood:

Variant related genes	Relation type
HNRNPF	TF binding region
ENSG00000243660	Chromatin interaction
ENSG00000150201	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000272173	Chromatin interaction
ENSG00000141441	Chromatin interaction
ENSG00000163468	Chromatin interaction
ENSG00000186854	Chromatin interaction
ENSG00000198915	Chromatin interaction
ENSG00000135486	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000163467	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000221886	Chromatin interaction
ENSG00000198298	Chromatin interaction
ENSG00000232004	Chromatin interaction
ENSG00000252532	Chromatin interaction
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12257917	0.81[EUR][1000 genomes]
rs17153606	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17153617	0.83[ASN][1000 genomes]
rs17153622	0.83[ASN][1000 genomes]
rs2252800	0.81[EUR][1000 genomes]
rs2265952	0.81[EUR][1000 genomes]
rs2819032	0.81[EUR][1000 genomes]
rs2819034	0.81[EUR][1000 genomes]
rs2893915	0.83[ASN][1000 genomes]
rs56059584	0.82[EUR][1000 genomes]
rs58461087	0.83[ASN][1000 genomes]
rs58723653	0.83[ASN][1000 genomes]
rs7092125	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73253725	0.83[ASN][1000 genomes]
rs7898074	0.83[ASN][1000 genomes]
rs7900950	0.83[ASN][1000 genomes]
rs7903028	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
8	esv3395522	chr10:43903571-43906119	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	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	chr10:43900800-43905600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:43901000-43905800	Active TSS	HSMM	muscle
3	chr10:43901200-43905200	Active TSS	Small Intestine	intestine
4	chr10:43901200-43905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:43901400-43905000	Active TSS	HMEC	breast
6	chr10:43901400-43905200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:43901400-43905400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr10:43901400-43905400	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr10:43901400-43905400	Active TSS	Ovary	ovary
10	chr10:43901400-43905600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:43901400-43905800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr10:43901600-43905400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr10:43901600-43905400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:43901600-43905400	Active TSS	Gastric	stomach
15	chr10:43901600-43905600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:43901600-43905600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr10:43901600-43905600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr10:43901600-43905600	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr10:43901600-43905600	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr10:43901600-43905600	Active TSS	Right Atrium	heart
21	chr10:43901600-43905600	Active TSS	GM12878-XiMat	blood
22	chr10:43901600-43905600	Active TSS	HSMMtube	muscle
23	chr10:43901600-43905600	Active TSS	NHDF-Ad	bronchial
24	chr10:43901600-43905600	Active TSS	NHLF	lung
25	chr10:43901600-43905800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr10:43901600-43905800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr10:43901600-43906000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:43901800-43905000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:43901800-43905000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:43901800-43905000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr10:43901800-43905000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:43901800-43905200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:43901800-43905400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:43901800-43905400	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr10:43901800-43905400	Active TSS	Liver	Liver
36	chr10:43901800-43905400	Active TSS	Esophagus	oesophagus
37	chr10:43901800-43905400	Active TSS	Fetal Intestine Large	intestine
38	chr10:43901800-43905400	Active TSS	Fetal Intestine Small	intestine
39	chr10:43901800-43905400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr10:43901800-43905400	Active TSS	Stomach Mucosa	stomach
41	chr10:43901800-43905400	Active TSS	Hela-S3	cervix
42	chr10:43901800-43905600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:43901800-43905600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:43901800-43905600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:43901800-43905800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr10:43901800-43905800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr10:43901800-43905800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr10:43901800-43905800	Active TSS	Fetal Kidney	kidney
49	chr10:43901800-43906000	Active TSS	Duodenum Mucosa	Duodenum
50	chr10:43902000-43905200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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