Variant report

Variant	rs73297119
Chromosome Location	chr8:105602118-105602119
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	MAZ	chr8:105599933-105602287	K562	blood:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
2	POLR2A	chr8:105600267-105602170	K562	blood:	n/a	n/a
3	ARID3A	chr8:105602106-105602508	K562	blood:	n/a	n/a
4	ZMIZ1	chr8:105600953-105602157	K562	blood:	n/a	n/a
5	POLR2A	chr8:105600524-105602191	GM19099	blood:	n/a	n/a
6	REST	chr8:105601293-105602126	MCF-7	breast:	n/a	chr8:105602050-105602063 chr8:105601642-105601652 chr8:105601694-105601703 chr8:105602050-105602063
7	HA-E2F1	chr8:105601224-105602827	MCF-7	breast:	n/a	chr8:105601463-105601473 chr8:105601485-105601499 chr8:105601488-105601502
8	HDAC2	chr8:105600754-105602360	MCF-7	breast:	n/a	chr8:105601556-105601564
9	HCFC1	chr8:105600849-105602333	K562	blood:	n/a	n/a
10	EBF1	chr8:105601732-105602127	GM12878	blood:	n/a	n/a
11	MAX	chr8:105600832-105602664	MCF-7	breast:	n/a	chr8:105601356-105601365
12	MYC	chr8:105600966-105602441	K562	blood:	n/a	chr8:105601356-105601365
13	ZNF263	chr8:105600850-105602812	HEK293-T-REx	kidney:	n/a	chr8:105601304-105601313 chr8:105601311-105601320
14	E2F6	chr8:105600463-105602154	K562	blood:	n/a	chr8:105601463-105601473 chr8:105601485-105601499 chr8:105601488-105601502 chr8:105600629-105600638 chr8:105601535-105601546
15	ZNF263	chr8:105600917-105602201	K562	blood:	n/a	chr8:105601304-105601313 chr8:105601311-105601320
16	BHLHE40	chr8:105600996-105602619	K562	blood:	n/a	chr8:105602037-105602053
17	POLR2A	chr8:105596596-105602930	K562	blood:	n/a	n/a
18	POLR2A	chr8:105600954-105602849	K562	blood:	n/a	n/a
19	TCF12	chr8:105601155-105602390	A549	lung:	n/a	n/a
20	MAX	chr8:105600989-105602370	K562	blood:	n/a	chr8:105601356-105601365
21	MXI1	chr8:105601924-105602125	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:105600730-105602279	K562	blood:	n/a	n/a
23	MAZ	chr8:105599837-105602298	IMR90	lung:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
24	MAX	chr8:105600906-105602230	SK-N-SH	brain:	n/a	chr8:105601356-105601365
25	SIN3A	chr8:105600223-105602305	H1-hESC	embryonic stem cell:	n/a	chr8:105602050-105602063
26	GATA1	chr8:105600991-105602490	PBDE	blood:	n/a	n/a
27	MAFK	chr8:105601408-105602370	K562	blood:	n/a	n/a
28	POLR2A	chr8:105600414-105602124	GM18505	blood:	n/a	n/a
29	POLR2A	chr8:105600274-105602135	GM18951	blood:	n/a	n/a
30	POLR2A	chr8:105601935-105602275	K562	blood:	n/a	n/a
31	POLR2A	chr8:105600315-105602882	K562	blood:	n/a	n/a
32	UBTF	chr8:105600006-105602351	K562	blood:	n/a	n/a
33	MAX	chr8:105600243-105602207	A549	lung:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
34	POLR2A	chr8:105600955-105602157	K562	blood:	n/a	n/a
35	WRNIP1	chr8:105601392-105602283	GM12878	blood:	n/a	n/a
36	CHD2	chr8:105601093-105602180	K562	blood:	n/a	chr8:105601730-105601740
37	CBX3	chr8:105601843-105603096	K562	blood:	n/a	n/a
38	MAX	chr8:105600942-105602192	ECC-1	luminal epithelium:	n/a	chr8:105601356-105601365
39	MAX	chr8:105600947-105602407	SK-N-SH	brain:	n/a	chr8:105601356-105601365
40	RCOR1	chr8:105599778-105602289	K562	blood:	n/a	n/a
41	POLR2A	chr8:105597878-105602244	GM12878	blood:	n/a	n/a
42	JUN	chr8:105600902-105602254	K562	blood:	n/a	chr8:105601363-105601372
43	ZNF143	chr8:105602099-105602302	K562	blood:	n/a	n/a
44	ELF1	chr8:105600837-105602150	MCF-7	breast:	n/a	chr8:105601544-105601556
45	MXI1	chr8:105599894-105602519	IMR90	lung:	n/a	n/a
46	CUX1	chr8:105601457-105602169	K562	blood:	n/a	n/a
47	MYC	chr8:105600980-105602373	K562	blood:	n/a	chr8:105601356-105601365
48	MAX	chr8:105600712-105602232	K562	blood:	n/a	chr8:105601356-105601365
49	MXI1	chr8:105598816-105602682	SK-N-SH	brain:	n/a	n/a
50	ZNF143	chr8:105601957-105602290	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
LRP12	TF binding region
ENSG00000253350	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs3910537	1.00[AMR][1000 genomes]
rs57345526	1.00[AMR][1000 genomes]
rs57576798	1.00[AMR][1000 genomes]
rs57818570	1.00[AMR][1000 genomes]
rs58114675	1.00[AMR][1000 genomes]
rs59216364	1.00[AMR][1000 genomes]
rs59493567	1.00[AMR][1000 genomes]
rs60059403	1.00[AMR][1000 genomes]
rs60373042	1.00[AMR][1000 genomes]
rs60973921	1.00[AMR][1000 genomes]
rs61420349	1.00[AMR][1000 genomes]
rs61625565	1.00[AMR][1000 genomes]
rs73293273	1.00[AMR][1000 genomes]
rs73293281	1.00[AMR][1000 genomes]
rs73293282	1.00[AMR][1000 genomes]
rs73293285	1.00[AMR][1000 genomes]
rs73295106	1.00[AMR][1000 genomes]
rs73295123	1.00[AMR][1000 genomes]
rs73295125	1.00[AMR][1000 genomes]
rs73295147	1.00[AMR][1000 genomes]
rs73295152	1.00[AMR][1000 genomes]
rs73295161	1.00[AMR][1000 genomes]
rs73295165	1.00[AMR][1000 genomes]
rs73295177	1.00[AMR][1000 genomes]
rs73295179	1.00[AMR][1000 genomes]
rs73295180	1.00[AMR][1000 genomes]
rs73295190	1.00[AMR][1000 genomes]
rs73297125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297130	0.92[AFR][1000 genomes]
rs73297134	0.82[AFR][1000 genomes]
rs73297137	0.92[AFR][1000 genomes]
rs73297141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297196	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299147	1.00[AMR][1000 genomes]
rs73299148	1.00[AMR][1000 genomes]
rs73302809	1.00[AMR][1000 genomes]
rs73302822	1.00[AMR][1000 genomes]
rs73302823	1.00[AMR][1000 genomes]
rs73302825	1.00[AMR][1000 genomes]
rs73302826	1.00[AMR][1000 genomes]
rs971106	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3369954	chr8:105600126-105602924	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105598600-105602400	Active TSS	GM12878-XiMat	blood
2	chr8:105599200-105602400	Active TSS	Right Atrium	heart
3	chr8:105599200-105602400	Active TSS	Right Ventricle	heart
4	chr8:105599400-105602200	Active TSS	Left Ventricle	heart
5	chr8:105599600-105602400	Active TSS	Colonic Mucosa	Colon
6	chr8:105599800-105602200	Active TSS	Fetal Kidney	kidney
7	chr8:105599800-105602400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr8:105599800-105602400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:105599800-105602400	Active TSS	HSMMtube	muscle
10	chr8:105600000-105602200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:105600000-105602200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:105600000-105602200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:105600000-105602400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:105600000-105602400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:105600000-105602400	Active TSS	Aorta	Aorta
16	chr8:105600000-105602400	Active TSS	Brain Substantia Nigra	brain
17	chr8:105600000-105602400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr8:105600000-105602400	Active TSS	HSMM	muscle
19	chr8:105600000-105602400	Active TSS	NHDF-Ad	bronchial
20	chr8:105600000-105602600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:105600000-105602600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:105600000-105602600	Active TSS	Fetal Lung	lung
23	chr8:105600000-105602800	Active TSS	Thymus	Thymus
24	chr8:105600200-105602200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr8:105600200-105602200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:105600200-105602200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:105600200-105602200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:105600200-105602200	Active TSS	Colon Smooth Muscle	Colon
29	chr8:105600200-105602200	Active TSS	Gastric	stomach
30	chr8:105600200-105602200	Active TSS	Ovary	ovary
31	chr8:105600200-105602200	Active TSS	Pancreas	Pancrea
32	chr8:105600200-105602200	Active TSS	Placenta Amnion	Placenta Amnion
33	chr8:105600200-105602200	Active TSS	Psoas Muscle	Psoas
34	chr8:105600200-105602200	Active TSS	A549	lung
35	chr8:105600200-105602400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:105600200-105602400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:105600400-105602200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:105600400-105602200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:105600400-105602200	Active TSS	Fetal Intestine Large	intestine
40	chr8:105600400-105602200	Active TSS	Lung	lung
41	chr8:105600400-105602200	Active TSS	Rectal Smooth Muscle	rectum
42	chr8:105600400-105602200	Active TSS	NHLF	lung
43	chr8:105600400-105602200	Active TSS	Osteobl	bone
44	chr8:105600400-105602400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr8:105600400-105602400	Active TSS	Fetal Stomach	stomach
46	chr8:105600400-105602400	Active TSS	Stomach Smooth Muscle	stomach
47	chr8:105600400-105602400	Active TSS	NHEK	skin
48	chr8:105600400-105602600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:105600600-105602200	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr8:105600600-105602400	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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