Variant report

Variant	rs71503901
Chromosome Location	chr10:92617659-92617660
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	CTCF	chr10:92617540-92617690	HEK293	kidney:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
2	RCOR1	chr10:92617552-92617752	K562	blood:	n/a	n/a
3	PAX5	chr10:92617252-92617699	GM12891	blood:	n/a	n/a
4	RAD21	chr10:92617411-92617664	HepG2	liver:	n/a	n/a
5	CTCF	chr10:92617435-92617670	GM10266	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
6	MAX	chr10:92616680-92617731	H1-hESC	embryonic stem cell:	n/a	chr10:92617598-92617608
7	FOXP2	chr10:92617201-92617798	PFSK-1	brain:	n/a	n/a
8	CTCF	chr10:92617402-92617733	HepG2	liver:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
9	CTCF	chr10:92617425-92617688	Lung_OC	lung:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
10	TCF7L2	chr10:92617513-92617697	PANC-1	pancreas:	n/a	n/a
11	CTCF	chr10:92617318-92617763	H1-hESC	embryonic stem cell:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
12	CTCF	chr10:92617388-92617709	MCF-7	breast:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
13	MYC	chr10:92617555-92617699	H1-hESC	embryonic stem cell:	n/a	chr10:92617598-92617608
14	MAX	chr10:92617252-92617804	K562	blood:	n/a	chr10:92617598-92617608
15	TAF7	chr10:92617334-92617805	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr10:92617396-92617799	Fibrobl	skin:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
17	FOS	chr10:92617446-92617781	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr10:92617520-92617670	AG04450	lung:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
19	CTCF	chr10:92617344-92617796	K562	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
20	PAX5	chr10:92617350-92617676	GM12878	blood:	n/a	n/a
21	ZBTB7A	chr10:92617433-92617729	K562	blood:	n/a	n/a
22	HMGN3	chr10:92617364-92618091	K562	blood:	n/a	n/a
23	ZBTB7A	chr10:92617412-92617664	K562	blood:	n/a	n/a
24	YY1	chr10:92617305-92617689	H1-hESC	embryonic stem cell:	n/a	chr10:92617540-92617554 chr10:92617619-92617630
25	CTCF	chr10:92617620-92617770	WI-38	lung:	n/a	chr10:92617645-92617658
26	ZNF143	chr10:92617359-92617710	H1-hESC	embryonic stem cell:	n/a	chr10:92617583-92617601
27	POLR2A	chr10:92617473-92617819	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr10:92617520-92617670	GM12872	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
29	CTCF	chr10:92617417-92617720	MCF-7	breast:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
30	CTCF	chr10:92617155-92618170	SK-N-SH	brain:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
31	SIN3A	chr10:92615640-92618428	H1-hESC	embryonic stem cell:	n/a	chr10:92617442-92617455 chr10:92617619-92617630
32	RCOR1	chr10:92617385-92618088	K562	blood:	n/a	n/a
33	ZNF143	chr10:92617408-92617699	K562	blood:	n/a	chr10:92617583-92617601
34	CTCF	chr10:92617397-92617730	GM19238	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
35	CTCF	chr10:92617431-92617675	LNCaP	prostate:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
36	CTCF	chr10:92617319-92617787	H1-hESC	embryonic stem cell:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
37	E2F4	chr10:92617636-92618103	MCF10A-Er-Src	breast:	n/a	chr10:92617951-92617960 chr10:92617767-92617777
38	MAX	chr10:92617225-92617824	ECC-1	luminal epithelium:	n/a	chr10:92617598-92617608
39	POLR2A	chr10:92617467-92617743	PFSK-1	brain:	n/a	n/a
40	SIN3AK20	chr10:92616671-92617746	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr10:92617345-92617818	HCT-116	colon:	n/a	n/a
42	TBP	chr10:92617364-92617787	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr10:92617231-92617705	H1-hESC	embryonic stem cell:	n/a	n/a
44	GABPA	chr10:92617312-92617662	H1-hESC	embryonic stem cell:	n/a	n/a
45	E2F6	chr10:92616648-92617684	H1-hESC	embryonic stem cell:	n/a	chr10:92617515-92617524 chr10:92616752-92616761 chr10:92617558-92617568 chr10:92616776-92616791
46	CTCF	chr10:92617429-92617758	SK-N-SH_RA	brain:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
47	ELF1	chr10:92617324-92617779	GM12878	blood:	n/a	chr10:92617618-92617627 chr10:92617521-92617533 chr10:92617769-92617778 chr10:92617599-92617611
48	YY1	chr10:92617290-92617808	HepG2	liver:	n/a	chr10:92617711-92617725 chr10:92617540-92617554 chr10:92617749-92617763 chr10:92617746-92617757 chr10:92617619-92617630
49	CTCF	chr10:92617438-92617676	GM12878	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
50	CTCF	chr10:92617337-92618006	K562	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:92617261..92617781-chr12:1100112..1100745,2	HCT-116	colon:
2	chr10:92617446..92619942-chr10:92629114..92632072,2	K562	blood:

Variant related genes	Relation type
HTR7	TF binding region
ENSG00000082805	Chromatin interaction
ENSG00000250132	Chromatin interaction
ENSG00000148688	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12411309	0.83[EUR][1000 genomes]
rs12761105	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1935346	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4933199	0.82[EUR][1000 genomes];0.81[ASN][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	nsv831945	chr10:92590576-92793582	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv20899	chr10:92617266-92618168	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv551910	chr10:92617295-92618030	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
4	nsv551911	chr10:92617295-92618082	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv1815232	chr10:92617295-92618616	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1823335	chr10:92617295-92618616	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1840527	chr10:92617295-92618616	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv551912	chr10:92617465-92618082	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92614400-92618600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:92614400-92618800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr10:92614400-92619000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:92614800-92618600	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr10:92614800-92619200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr10:92615000-92618200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr10:92615200-92618200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:92615400-92618600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:92615800-92618000	Active TSS	Osteobl	bone
10	chr10:92615800-92618400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr10:92616000-92618000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:92616000-92618000	Active TSS	Muscle Satellite Cultured Cells	--
13	chr10:92616000-92618000	Active TSS	HMEC	breast
14	chr10:92616000-92618600	Bivalent/Poised TSS	Fetal Stomach	stomach
15	chr10:92616200-92618400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:92616600-92618400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:92616600-92618600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
18	chr10:92616800-92617800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr10:92616800-92618000	Active TSS	NHEK	skin
20	chr10:92616800-92618400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr10:92616800-92618400	Active TSS	Aorta	Aorta
22	chr10:92616800-92618800	Active TSS	NHLF	lung
23	chr10:92617000-92618200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:92617000-92618200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr10:92617000-92618200	Flanking Bivalent TSS/Enh	Dnd41	blood
26	chr10:92617000-92618200	Active TSS	Hela-S3	cervix
27	chr10:92617000-92618200	Bivalent/Poised TSS	HepG2	liver
28	chr10:92617000-92618400	Active TSS	Brain Cingulate Gyrus	brain
29	chr10:92617000-92618400	Active TSS	Psoas Muscle	Psoas
30	chr10:92617000-92618400	Active TSS	HSMMtube	muscle
31	chr10:92617000-92618600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr10:92617000-92618600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:92617200-92618000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:92617200-92618000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:92617200-92618000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:92617200-92618000	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr10:92617200-92618000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr10:92617200-92618000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr10:92617200-92618000	Bivalent/Poised TSS	Fetal Thymus	thymus
40	chr10:92617200-92618000	Active TSS	Small Intestine	intestine
41	chr10:92617200-92618000	Active TSS	GM12878-XiMat	blood
42	chr10:92617200-92618000	Active TSS	HSMM	muscle
43	chr10:92617200-92618200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:92617200-92618200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:92617200-92618200	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr10:92617200-92618200	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr10:92617200-92618200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr10:92617200-92618200	Active TSS	Colon Smooth Muscle	Colon
49	chr10:92617200-92618200	Active TSS	Esophagus	oesophagus
50	chr10:92617200-92618200	Active TSS	Gastric	stomach

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