Variant report

Variant	rs61297532
Chromosome Location	chr10:6245754-6245755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:6244367-6246094	GM12891	blood:	n/a	n/a
2	RAD21	chr10:6244320-6245786	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr10:6245280-6245766	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr10:6242644-6247076	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr10:6244381-6246278	GM12878	blood:	n/a	n/a
6	SP1	chr10:6244196-6245871	A549	lung:	n/a	chr10:6244228-6244237 chr10:6244224-6244238
7	POLR2A	chr10:6244469-6246266	H1-neurons	neurons:	n/a	n/a
8	RAD21	chr10:6244452-6245961	IMR90	lung:	n/a	n/a
9	TCF12	chr10:6243574-6247500	A549	lung:	n/a	chr10:6244120-6244127 chr10:6244121-6244131
10	MYC	chr10:6245580-6245931	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr10:6244384-6245767	HepG2	liver:	n/a	n/a
12	MAX	chr10:6244436-6245826	HCT-116	colon:	n/a	n/a
13	E2F6	chr10:6245470-6246543	H1-hESC	embryonic stem cell:	n/a	chr10:6245722-6245734 chr10:6245926-6245936
14	RAD21	chr10:6243486-6246230	SK-N-SH	brain:	n/a	chr10:6244125-6244135
15	SP1	chr10:6244436-6247427	A549	lung:	n/a	chr10:6246476-6246486
16	POLR2A	chr10:6244696-6245783	HEK293	kidney:	n/a	n/a
17	MAX	chr10:6244130-6246578	MCF-7	breast:	n/a	chr10:6244170-6244180 chr10:6244173-6244183
18	POLR2A	chr10:6244635-6245781	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr10:6244523-6245824	GM15510	blood:	n/a	n/a
20	CTCF	chr10:6245660-6245810	AG09319	gingival:	n/a	n/a
21	CTCF	chr10:6245640-6245790	HAc	cerebellar:	n/a	n/a
22	SMC3	chr10:6244549-6245831	Hela-S3	cervix:	n/a	n/a
23	SMC3	chr10:6242512-6247173	SK-N-SH	brain:	n/a	chr10:6245922-6245932 chr10:6243015-6243025
24	BCL3	chr10:6244502-6246000	A549	lung:	n/a	n/a
25	MXI1	chr10:6245540-6246046	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F4	chr10:6245665-6245874	MCF10A-Er-Src	breast:	n/a	chr10:6245722-6245734
27	POLR2A	chr10:6244438-6246716	MCF10A-Er-Src	breast:	n/a	n/a
28	POU2F2	chr10:6244552-6245790	GM12878	blood:	n/a	n/a
29	PML	chr10:6245441-6245804	GM12878	blood:	n/a	n/a
30	CTCF	chr10:6243513-6247466	A549	lung:	n/a	chr10:6244171-6244184 chr10:6246034-6246047 chr10:6245938-6245951 chr10:6246241-6246254 chr10:6245941-6245954
31	USF1	chr10:6245447-6245773	A549	lung:	n/a	n/a
32	POLR2A	chr10:6244581-6247062	K562	blood:	n/a	n/a
33	HA-E2F1	chr10:6244414-6246646	MCF-7	breast:	n/a	chr10:6245722-6245734 chr10:6245926-6245936
34	MAX	chr10:6244518-6245791	K562	blood:	n/a	n/a
35	MAX	chr10:6244385-6245792	HCT-116	colon:	n/a	n/a
36	POLR2A	chr10:6244659-6245834	GM12878	blood:	n/a	n/a
37	ELF1	chr10:6244233-6245791	MCF-7	breast:	n/a	n/a
38	TAF1	chr10:6245399-6245811	H1-neurons	neurons:	n/a	n/a
39	ETS1	chr10:6245493-6245987	A549	lung:	n/a	n/a
40	POLR2A	chr10:6244532-6245763	HUVEC	blood vessel:	n/a	n/a
41	GATA3	chr10:6244277-6247528	A549	lung:	n/a	n/a
42	MAX	chr10:6242769-6246556	A549	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
43	MAX	chr10:6244323-6245768	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr10:6244605-6245959	GM12891	blood:	n/a	n/a
45	JUND	chr10:6244481-6245780	A549	lung:	n/a	n/a
46	MXI1	chr10:6244137-6247434	IMR90	lung:	n/a	n/a
47	ZBTB33	chr10:6245624-6246090	A549	lung:	n/a	n/a
48	POLR2A	chr10:6244474-6245814	GM12892	blood:	n/a	n/a
49	POLR2A	chr10:6244677-6245792	Hela-S3	cervix:	n/a	n/a
50	SIN3A	chr10:6243532-6247000	H1-hESC	embryonic stem cell:	n/a	chr10:6244188-6244202 chr10:6246143-6246154

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6244444..6246172-chr11:60928588..60930441,2	MCF-7	breast:
2	chr10:6129825..6133257-chr10:6241985..6247329,10	MCF-7	breast:
3	chr10:6129204..6131748-chr10:6244207..6246414,2	K562	blood:
4	chr10:6183735..6189299-chr10:6241759..6246920,10	MCF-7	breast:
5	chr10:6245082..6247661-chr9:91147129..91149982,2	MCF-7	breast:
6	chr10:6143166..6145739-chr10:6245064..6246579,2	K562	blood:
7	chr10:6243696..6246547-chr17:56707857..56709473,2	MCF-7	breast:
8	chr10:6244869..6246858-chr17:56708954..56710918,2	MCF-7	breast:
9	chr10:6192153..6194563-chr10:6245038..6246551,2	MCF-7	breast:
10	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
11	chr10:6244272..6246403-chr13:37573169..37575216,2	MCF-7	breast:
12	chr10:6243668..6247308-chr10:6319585..6323356,5	MCF-7	breast:
13	chr10:6245084..6247522-chr10:6358973..6361369,2	MCF-7	breast:
14	chr10:6198072..6199793-chr10:6244896..6246657,2	MCF-7	breast:
15	chr10:6149017..6157788-chr10:6241652..6246346,17	MCF-7	breast:
16	chr10:6242187..6248014-chr10:6262246..6271624,18	MCF-7	breast:
17	chr10:6132741..6135647-chr10:6244936..6248119,3	MCF-7	breast:
18	chr10:6245455..6246346-chr10:6340008..6340562,2	MCF-7	breast:
19	chr10:6128377..6132115-chr10:6241834..6247197,6	MCF-7	breast:
20	chr10:6149112..6154904-chr10:6241492..6247373,13	MCF-7	breast:
21	chr10:6189894..6192661-chr10:6244759..6246996,2	MCF-7	breast:
22	chr10:6245398..6245952-chr10:6348848..6349696,2	K562	blood:
23	chr10:6244071..6246577-chr11:62606915..62609638,2	MCF-7	breast:
24	chr10:6145584..6148508-chr10:6244741..6246500,2	MCF-7	breast:
25	chr10:6245444..6247830-chr10:6297779..6300544,2	MCF-7	breast:
26	chr10:6130184..6130942-chr10:6245055..6246031,2	MCF-7	breast:
27	chr10:6244951..6247440-chr10:6279322..6281493,5	MCF-7	breast:
28	chr10:6245319..6247600-chr17:59477846..59479369,2	MCF-7	breast:
29	chr10:6240729..6242580-chr10:6245113..6247243,2	K562	blood:
30	chr10:5930925..5933506-chr10:6244058..6246915,2	MCF-7	breast:
31	chr10:6242739..6248482-chr10:6257769..6263853,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213994	TF binding region
ENSG00000120699	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000201581	Chromatin interaction
ENSG00000167987	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000215244	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000263628	Chromatin interaction
ENSG00000134453	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11257259	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4750075	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv894832	chr10:6237156-6253651	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv894833	chr10:6237156-6261704	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv894834	chr10:6237156-6272169	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv521145	chr10:6241803-6246678	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv894835	chr10:6242176-6268422	Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	esv3441356	chr10:6243771-6246319	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr10:6242600-6246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:6242800-6246400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr10:6242800-6246400	Active TSS	Colon Smooth Muscle	Colon
4	chr10:6242800-6246400	Active TSS	Ovary	ovary
5	chr10:6242800-6246600	Active TSS	Placenta Amnion	Placenta Amnion
6	chr10:6242800-6246600	Active TSS	Psoas Muscle	Psoas
7	chr10:6242800-6247000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr10:6242800-6247400	Active TSS	Fetal Kidney	kidney
9	chr10:6242800-6247800	Active TSS	Aorta	Aorta
10	chr10:6243000-6246600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr10:6243600-6246600	Active TSS	HSMMtube	muscle
12	chr10:6243600-6247200	Flanking Active TSS	Liver	Liver
13	chr10:6243600-6247200	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr10:6243800-6245800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:6243800-6247400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr10:6244200-6246800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:6244400-6246200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:6244400-6246400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr10:6244400-6246400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:6244400-6246400	Active TSS	Brain Angular Gyrus	brain
21	chr10:6244400-6246600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr10:6244400-6246600	Active TSS	Small Intestine	intestine
23	chr10:6244600-6245800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:6244600-6245800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:6244600-6245800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr10:6244600-6245800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr10:6244600-6245800	Active TSS	Fetal Intestine Small	intestine
28	chr10:6244600-6245800	Active TSS	Fetal Muscle Trunk	muscle
29	chr10:6244600-6245800	Active TSS	Fetal Stomach	stomach
30	chr10:6244600-6245800	Active TSS	HUVEC	blood vessel
31	chr10:6244600-6246000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:6244600-6246000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:6244600-6246000	Active TSS	Duodenum Mucosa	Duodenum
34	chr10:6244600-6246000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr10:6244600-6246000	Active TSS	K562	blood
36	chr10:6244600-6246200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:6244600-6246200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr10:6244600-6246200	Active TSS	Primary T cells from cord blood	blood
39	chr10:6244600-6246200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr10:6244600-6246200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr10:6244600-6246200	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr10:6244600-6246200	Active TSS	Brain Cingulate Gyrus	brain
43	chr10:6244600-6246200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:6244600-6246200	Active TSS	Left Ventricle	heart
45	chr10:6244600-6246200	Active TSS	Lung	lung
46	chr10:6244600-6246200	Active TSS	Right Ventricle	heart
47	chr10:6244600-6246400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr10:6244600-6246400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:6244600-6246400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:6244600-6246400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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