Variant report

Variant	rs45607240
Chromosome Location	chr10:97050802-97050803
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	CTCF	chr10:97050626-97050823	Fibrobl	skin:	n/a	n/a
2	HA-E2F1	chr10:97050172-97051493	MCF-7	breast:	n/a	chr10:97050800-97050810 chr10:97050499-97050508 chr10:97050829-97050839
3	POLR2A	chr10:97050452-97050858	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr10:97050323-97050853	A549	lung:	n/a	n/a
5	YY1	chr10:97050606-97050844	HCT-116	colon:	n/a	chr10:97050793-97050804 chr10:97050828-97050837
6	MAZ	chr10:97048886-97051702	IMR90	lung:	n/a	chr10:97050825-97050835
7	CTCF	chr10:97050700-97050850	HCT-116	colon:	n/a	n/a
8	MAX	chr10:97050542-97051337	A549	lung:	n/a	chr10:97050825-97050835
9	MXI1	chr10:97050269-97051268	GM12878	blood:	n/a	n/a
10	E2F6	chr10:97050295-97051504	A549	lung:	n/a	chr10:97051067-97051078 chr10:97050800-97050810 chr10:97050499-97050508 chr10:97050829-97050839
11	MAX	chr10:97050243-97051488	HepG2	liver:	n/a	chr10:97050825-97050835
12	RAD21	chr10:97050570-97050889	K562	blood:	n/a	chr10:97050789-97050803
13	EGR1	chr10:97050500-97051002	K562	blood:	n/a	chr10:97050826-97050839 chr10:97050798-97050812 chr10:97050829-97050839 chr10:97050826-97050839 chr10:97050829-97050838 chr10:97050826-97050839 chr10:97050797-97050810 chr10:97050827-97050841 chr10:97050826-97050839 chr10:97050826-97050840
14	CTCF	chr10:97050680-97050830	NHLF	lung:	n/a	n/a
15	CTCF	chr10:97050660-97050810	GM12878	blood:	n/a	n/a
16	YY1	chr10:97050455-97050875	GM12891	blood:	n/a	chr10:97050793-97050804 chr10:97050828-97050837
17	YY1	chr10:97050238-97051204	GM12892	blood:	n/a	chr10:97050380-97050394 chr10:97050793-97050804 chr10:97050828-97050837
18	STAT5A	chr10:97050429-97052041	GM12878	blood:	n/a	n/a
19	SMC3	chr10:97050465-97050901	Hela-S3	cervix:	n/a	n/a
20	E2F4	chr10:97050482-97051292	K562	blood:	n/a	chr10:97050800-97050810 chr10:97050499-97050508 chr10:97050829-97050839
21	POLR2A	chr10:97050389-97050824	GM12891	blood:	n/a	n/a
22	E2F4	chr10:97050624-97051455	MCF10A-Er-Src	breast:	n/a	chr10:97050800-97050810 chr10:97050829-97050839
23	CTCF	chr10:97050660-97050810	GM12873	blood:	n/a	n/a
24	YY1	chr10:97050369-97051127	SK-N-SH	brain:	n/a	chr10:97050380-97050394 chr10:97050793-97050804 chr10:97050828-97050837
25	POLR2A	chr10:97050498-97050847	HUVEC	blood vessel:	n/a	n/a
26	TBP	chr10:97050427-97050918	HepG2	liver:	n/a	n/a
27	POLR2A	chr10:97050523-97051033	A549	lung:	n/a	n/a
28	MAX	chr10:97050507-97051313	MCF-7	breast:	n/a	chr10:97050825-97050835
29	ZEB1	chr10:97050564-97051108	GM12878	blood:	n/a	n/a
30	REST	chr10:97050625-97051068	PANC-1	pancreas:	n/a	chr10:97050980-97050993
31	E2F6	chr10:97050445-97051339	K562	blood:	n/a	chr10:97051067-97051078 chr10:97050800-97050810 chr10:97050499-97050508 chr10:97050829-97050839
32	CTCF	chr10:97050680-97050830	RPTEC	kidney:	n/a	n/a
33	MAX	chr10:97050147-97051499	ECC-1	luminal epithelium:	n/a	chr10:97050825-97050835
34	MAZ	chr10:97050345-97051072	Hela-S3	cervix:	n/a	chr10:97050825-97050835
35	MYC	chr10:97050201-97051318	K562	blood:	n/a	chr10:97050825-97050835
36	EP300	chr10:97050686-97050803	K562	blood:	n/a	n/a
37	POLR2A	chr10:97050246-97051883	GM12878	blood:	n/a	n/a
38	STAT1	chr10:97050240-97051168	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:97050149-97051146	ECC-1	luminal epithelium:	n/a	n/a
40	HDAC2	chr10:97050477-97051336	HepG2	liver:	n/a	n/a
41	CREB1	chr10:97050470-97051261	A549	lung:	n/a	n/a
42	CHD2	chr10:97050368-97050857	K562	blood:	n/a	n/a
43	CTCF	chr10:97050584-97050827	GM12892	blood:	n/a	n/a
44	POLR2A	chr10:97050464-97051136	K562	blood:	n/a	n/a
45	MAX	chr10:97049275-97051652	A549	lung:	n/a	chr10:97050825-97050835
46	CTCF	chr10:97050680-97050830	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr10:97050680-97050830	GM12869	blood:	n/a	n/a
48	POLR2A	chr10:97050506-97050829	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr10:97050411-97050825	U87	brain:	n/a	n/a
50	CTCF	chr10:97050690-97050819	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:97050094..97051679-chr11:65189591..65191802,2	MCF-7	breast:
2	chr10:97031617..97033623-chr10:97049399..97051211,2	K562	blood:
3	chr10:96989099..96991002-chr10:97047738..97051859,4	MCF-7	breast:
4	chr10:97002381..97008883-chr10:97045266..97052392,13	MCF-7	breast:
5	chr10:97030116..97038568-chr10:97046190..97052064,12	MCF-7	breast:
6	chr10:97050574..97051322-chr14:53258313..53259081,2	Hela-S3	cervix:

Variant related genes	Relation type
PDLIM1	TF binding region
ENSG00000245532	Chromatin interaction
ENSG00000234026	Chromatin interaction
ENSG00000100522	Chromatin interaction
ENSG00000107438	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12098317	0.86[AFR][1000 genomes]
rs45530935	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97047000-97051000	Active TSS	Right Atrium	heart
2	chr10:97047400-97051200	Active TSS	Aorta	Aorta
3	chr10:97047800-97051000	Active TSS	Fetal Intestine Large	intestine
4	chr10:97048200-97051400	Active TSS	Rectal Smooth Muscle	rectum
5	chr10:97048400-97051000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:97048400-97051000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:97048400-97051000	Active TSS	Small Intestine	intestine
8	chr10:97048400-97051200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr10:97048800-97051000	Active TSS	Placenta Amnion	Placenta Amnion
10	chr10:97049000-97051000	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr10:97049000-97051200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr10:97049000-97051400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:97049000-97051400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr10:97049000-97051400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr10:97049200-97051000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr10:97049200-97051000	Active TSS	Stomach Mucosa	stomach
17	chr10:97049200-97051200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr10:97049200-97051200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:97049200-97051400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr10:97049200-97051400	Active TSS	NHEK	skin
21	chr10:97049400-97051000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr10:97049400-97051000	Active TSS	Fetal Intestine Small	intestine
23	chr10:97049400-97051000	Active TSS	Lung	lung
24	chr10:97049400-97051000	Active TSS	HMEC	breast
25	chr10:97049400-97051000	Active TSS	NHLF	lung
26	chr10:97049400-97051200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr10:97049400-97051200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:97049400-97051200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:97049400-97051200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:97049400-97051200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:97049400-97051200	Active TSS	Right Ventricle	heart
32	chr10:97049400-97051400	Active TSS	Duodenum Mucosa	Duodenum
33	chr10:97049600-97051000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:97049600-97051000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr10:97049600-97051000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:97049600-97051000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
37	chr10:97049600-97051000	Active TSS	GM12878-XiMat	blood
38	chr10:97049600-97051000	Active TSS	K562	blood
39	chr10:97049600-97051200	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr10:97049600-97051200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:97049600-97051200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
42	chr10:97049600-97051200	Active TSS	Esophagus	oesophagus
43	chr10:97049600-97051200	Active TSS	Fetal Kidney	kidney
44	chr10:97049600-97051200	Active TSS	Left Ventricle	heart
45	chr10:97049600-97051200	Active TSS	Ovary	ovary
46	chr10:97049600-97051200	Active TSS	Psoas Muscle	Psoas
47	chr10:97049600-97051400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr10:97049800-97051000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:97049800-97051000	Active TSS	HSMM	muscle
50	chr10:97049800-97051200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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