Variant report

Variant	rs12573951
Chromosome Location	chr11:71158672-71158673
allele	A/G
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	MYC	chr11:71158283-71160560	NB4	blood:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
2	POLR2A	chr11:71158476-71160220	MCF-7	breast:	n/a	n/a
3	CEBPB	chr11:71158251-71158978	Hela-S3	cervix:	n/a	chr11:71158449-71158460 chr11:71158448-71158459 chr11:71158450-71158459 chr11:71158448-71158461
4	MYC	chr11:71158285-71158780	MCF10A-Er-Src	breast:	n/a	n/a
5	SIN3AK20	chr11:71157693-71160571	MCF-7	breast:	n/a	n/a
6	UBTF	chr11:71158638-71160266	K562	blood:	n/a	n/a
7	ZEB1	chr11:71158641-71160226	GM12878	blood:	n/a	chr11:71158730-71158741 chr11:71159264-71159271
8	SIN3A	chr11:71158432-71160629	H1-hESC	embryonic stem cell:	n/a	chr11:71159719-71159728 chr11:71159721-71159730 chr11:71158949-71158962
9	RXRA	chr11:71158086-71158718	HepG2	liver:	n/a	n/a
10	MXI1	chr11:71158050-71161114	IMR90	lung:	n/a	chr11:71159719-71159728 chr11:71159721-71159730 chr11:71159719-71159728
11	POLR2A	chr11:71158416-71160416	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr11:71158235-71158836	MCF-7	breast:	n/a	chr11:71158449-71158460 chr11:71158448-71158459 chr11:71158450-71158459 chr11:71158448-71158461
13	HEY1	chr11:71158322-71158819	HepG2	liver:	n/a	n/a
14	REST	chr11:71158619-71160323	H1-neurons	neurons:	n/a	chr11:71159695-71159708 chr11:71158949-71158962 chr11:71159277-71159290
15	RCOR1	chr11:71158436-71158983	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:71158416-71159965	MCF-7	breast:	n/a	n/a
17	MAX	chr11:71158207-71160474	NB4	blood:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
18	TEAD4	chr11:71158079-71158753	HepG2	liver:	n/a	n/a
19	MAX	chr11:71158263-71160426	HepG2	liver:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
20	CEBPB	chr11:71158258-71158724	K562	blood:	n/a	chr11:71158449-71158460 chr11:71158448-71158459 chr11:71158450-71158459 chr11:71158448-71158461
21	CEBPB	chr11:71158132-71158729	HepG2	liver:	n/a	chr11:71158449-71158460 chr11:71158448-71158459 chr11:71158450-71158459 chr11:71158448-71158461
22	TCF7L2	chr11:71158409-71158987	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:71158329-71158847	MCF10A-Er-Src	breast:	n/a	n/a
24	ZEB1	chr11:71158340-71160307	HepG2	liver:	n/a	chr11:71158730-71158741 chr11:71159264-71159271
25	CEBPB	chr11:71158065-71159034	MCF-7	breast:	n/a	chr11:71158449-71158460 chr11:71158448-71158459 chr11:71158450-71158459 chr11:71158448-71158461
26	HCFC1	chr11:71158357-71160850	Hela-S3	cervix:	n/a	n/a
27	ZNF263	chr11:71158304-71159443	HEK293-T-REx	kidney:	n/a	n/a
28	MAX	chr11:71158640-71160437	K562	blood:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
29	MYC	chr11:71158268-71158686	MCF10A-Er-Src	breast:	n/a	n/a
30	NR2F2	chr11:71158029-71158749	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:71158551-71158696	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:71158301-71158865	HepG2	liver:	n/a	n/a
33	MAX	chr11:71158618-71160479	MCF-7	breast:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
34	MXI1	chr11:71158250-71161741	SK-N-SH	brain:	n/a	chr11:71159719-71159728 chr11:71159721-71159730 chr11:71159719-71159728
35	POLR2A	chr11:71158577-71158892	ProgFib	skin:	n/a	n/a
36	MAX	chr11:71158356-71160499	MCF-7	breast:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730
37	CEBPB	chr11:71158133-71158691	HepG2	liver:	n/a	chr11:71158449-71158460 chr11:71158448-71158459 chr11:71158450-71158459 chr11:71158448-71158461
38	POLR2A	chr11:71158399-71158758	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:71158499-71158780	HepG2	liver:	n/a	n/a
40	MAZ	chr11:71158254-71160633	IMR90	lung:	n/a	chr11:71159722-71159731 chr11:71159720-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159719-71159729 chr11:71159719-71159730 chr11:71159720-71159729 chr11:71159720-71159730

No.	Distal block	Cell Line	Cell type
1	chr11:71150692..71153685-chr11:71157371..71159231,2	K562	blood:
2	chr11:70805722..70807297-chr11:71158455..71160766,2	MCF-7	breast:
3	chr11:71156994..71165841-chr11:71185066..71202614,31	MCF-7	breast:
4	chr11:71157940..71161417-chr11:71161465..71165970,9	K562	blood:

Variant related genes	Relation type
ENSG00000254682	TF binding region
ENSG00000172890	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000162105	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12573862	1.00[ASN][1000 genomes]
rs17161467	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4316537	0.92[EUR][1000 genomes]
rs7122671	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 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	chr11:71155400-71158800	Weak transcription	Left Ventricle	heart
2	chr11:71156200-71158800	Weak transcription	Right Ventricle	heart
3	chr11:71156600-71158800	Weak transcription	Ovary	ovary
4	chr11:71157400-71158800	Transcr. at gene 5' and 3'	K562	blood
5	chr11:71157600-71158800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
6	chr11:71157800-71158800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
7	chr11:71157800-71158800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
8	chr11:71157800-71158800	Flanking Active TSS	Fetal Brain Female	brain
9	chr11:71157800-71158800	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr11:71158000-71158800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:71158000-71158800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:71158000-71158800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:71158000-71158800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:71158000-71158800	Enhancers	Spleen	Spleen
15	chr11:71158000-71159000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:71158000-71159000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr11:71158000-71159000	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr11:71158000-71159000	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:71158000-71159200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:71158000-71161000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:71158000-71161000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:71158200-71158800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:71158200-71158800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:71158200-71158800	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr11:71158200-71158800	Flanking Active TSS	Fetal Brain Male	brain
26	chr11:71158200-71158800	Enhancers	Fetal Lung	lung
27	chr11:71158200-71158800	Enhancers	Small Intestine	intestine
28	chr11:71158200-71158800	Flanking Active TSS	NHEK	skin
29	chr11:71158200-71159000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr11:71158200-71159000	Flanking Active TSS	Liver	Liver
31	chr11:71158200-71159000	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr11:71158200-71159000	Flanking Active TSS	Hela-S3	cervix
33	chr11:71158200-71159000	Flanking Active TSS	HUVEC	blood vessel
34	chr11:71158200-71159000	Flanking Active TSS	NH-A	brain
35	chr11:71158200-71159000	Flanking Active TSS	Osteobl	bone
36	chr11:71158200-71159200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr11:71158200-71159200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr11:71158200-71159200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:71158200-71160200	Active TSS	HSMMtube	muscle
40	chr11:71158400-71158800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:71158400-71158800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:71158400-71158800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:71158400-71158800	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:71158400-71158800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:71158400-71158800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:71158400-71158800	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr11:71158400-71158800	Enhancers	Fetal Muscle Trunk	muscle
48	chr11:71158400-71158800	Enhancers	Placenta	Placenta
49	chr11:71158400-71158800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:71158400-71159000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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