Variant report

Variant	rs561244881
Chromosome Location	chr10:6243450-6243451
allele	C/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	MAX	chr10:6243420-6243926	H1-hESC	embryonic stem cell:	n/a	chr10:6243866-6243875
2	EP300	chr10:6243410-6243758	SK-N-SH_RA	brain:	n/a	n/a
3	MXI1	chr10:6242644-6247076	SK-N-SH	brain:	n/a	n/a
4	HEY1	chr10:6242414-6245097	HepG2	liver:	n/a	chr10:6243015-6243030 chr10:6243778-6243793
5	POLR2A	chr10:6243426-6243923	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:6243374-6243929	HepG2	liver:	n/a	n/a
7	MAX	chr10:6242660-6244139	HepG2	liver:	n/a	chr10:6243866-6243875
8	ZBTB7A	chr10:6242832-6243737	ECC-1	luminal epithelium:	n/a	n/a
9	FOXP2	chr10:6243450-6243863	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr10:6243419-6243852	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr10:6243416-6243921	A549	lung:	n/a	n/a
12	MAX	chr10:6242532-6244027	GM12878	blood:	n/a	chr10:6243866-6243875
13	POLR2A	chr10:6243439-6243878	GM12891	blood:	n/a	n/a
14	SMC3	chr10:6242512-6247173	SK-N-SH	brain:	n/a	chr10:6245922-6245932 chr10:6243015-6243025
15	MXI1	chr10:6243449-6244056	IMR90	lung:	n/a	n/a
16	MAZ	chr10:6242398-6243967	GM12878	blood:	n/a	chr10:6243866-6243875
17	YY1	chr10:6243404-6243813	HepG2	liver:	n/a	chr10:6243777-6243791
18	POLR2A	chr10:6243447-6243966	ProgFib	skin:	n/a	n/a
19	MXI1	chr10:6243049-6244069	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:6242428-6245381	U87	brain:	n/a	n/a
21	POLR2A	chr10:6242869-6244029	H1-neurons	neurons:	n/a	n/a
22	MAX	chr10:6243434-6244095	ECC-1	luminal epithelium:	n/a	chr10:6243866-6243875
23	POLR2A	chr10:6243414-6243933	A549	lung:	n/a	n/a
24	POLR2A	chr10:6243409-6243924	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:6243392-6244020	GM12892	blood:	n/a	n/a
26	MAX	chr10:6242769-6246556	A549	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
27	BHLHE40	chr10:6243093-6243952	GM12878	blood:	n/a	chr10:6243555-6243571
28	POLR2A	chr10:6243102-6245702	HepG2	liver:	n/a	n/a
29	E2F6	chr10:6243448-6243957	A549	lung:	n/a	n/a
30	MAX	chr10:6242629-6244096	MCF-7	breast:	n/a	chr10:6243866-6243875
31	POU2F2	chr10:6243442-6244016	GM12878	blood:	n/a	n/a
32	PAX5	chr10:6243413-6243711	GM12892	blood:	n/a	chr10:6243575-6243584
33	MAX	chr10:6242672-6244023	HepG2	liver:	n/a	chr10:6243866-6243875
34	TBL1XR1	chr10:6243142-6243970	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:6242449-6247290	GM12878	blood:	n/a	n/a
36	POLR2A	chr10:6243437-6243930	H1-neurons	neurons:	n/a	n/a
37	CREB1	chr10:6243395-6244084	HepG2	liver:	n/a	n/a
38	MAX	chr10:6243446-6244028	ECC-1	luminal epithelium:	n/a	chr10:6243866-6243875
39	TAF1	chr10:6243399-6243848	HepG2	liver:	n/a	n/a
40	POLR2A	chr10:6243415-6245580	U87	brain:	n/a	n/a
41	MAZ	chr10:6243218-6243793	HepG2	liver:	n/a	n/a
42	E2F6	chr10:6243436-6244170	A549	lung:	n/a	n/a
43	POLR2A	chr10:6242617-6243968	A549	lung:	n/a	n/a
44	MAZ	chr10:6242545-6247296	IMR90	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
45	POLR2A	chr10:6242566-6246082	Raji	blood:	n/a	n/a
46	ZNF143	chr10:6243441-6243930	GM12878	blood:	n/a	chr10:6243783-6243793 chr10:6243777-6243787
47	MAX	chr10:6242633-6247414	A549	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
48	MAX	chr10:6243421-6243749	K562	blood:	n/a	n/a
49	CHD2	chr10:6242824-6245522	GM12878	blood:	n/a	n/a
50	CREB1	chr10:6243443-6243903	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:6129825..6133257-chr10:6241985..6247329,10	MCF-7	breast:
2	chr10:6183735..6189299-chr10:6241759..6246920,10	MCF-7	breast:
3	chr10:6193518..6195996-chr10:6241964..6244930,2	MCF-7	breast:
4	chr10:6152733..6154775-chr10:6241861..6244257,2	K562	blood:
5	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
6	chr10:6149065..6151002-chr10:6243111..6244731,2	K562	blood:
7	chr10:6137316..6139736-chr10:6243153..6245060,3	MCF-7	breast:
8	chr10:6239790..6243643-chr10:6244316..6247669,6	K562	blood:
9	chr10:6234379..6237357-chr10:6241010..6243643,2	K562	blood:
10	chr10:6149017..6157788-chr10:6241652..6246346,17	MCF-7	breast:
11	chr10:6242187..6248014-chr10:6262246..6271624,18	MCF-7	breast:
12	chr10:6128377..6132115-chr10:6241834..6247197,6	MCF-7	breast:
13	chr10:6149112..6154904-chr10:6241492..6247373,13	MCF-7	breast:
14	chr10:6242059..6244389-chr6:31867421..31869441,2	MCF-7	breast:
15	chr10:6242978..6244543-chr10:129751150..129752763,2	MCF-7	breast:
16	chr10:6242075..6244740-chr10:27530620..27532882,2	MCF-7	breast:
17	chr10:6237461..6239091-chr10:6241197..6244129,2	K562	blood:
18	chr10:6242739..6248482-chr10:6257769..6263853,7	MCF-7	breast:

Variant related genes	Relation type
PFKFB3	TF binding region
ENSG00000134453	Chromatin interaction
ENSG00000263628	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000107897	Chromatin interaction

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

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	esv3333968	chr10:6242696-6244844	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
2	chr10:6237600-6243600	Weak transcription	HSMMtube	muscle
3	chr10:6242200-6243600	Active TSS	Stomach Smooth Muscle	stomach
4	chr10:6242200-6244000	Enhancers	Fetal Heart	heart
5	chr10:6242400-6244000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:6242400-6244600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr10:6242400-6244600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:6242400-6244800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:6242600-6243800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr10:6242600-6243800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr10:6242600-6243800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:6242600-6243800	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr10:6242600-6243800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:6242600-6243800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr10:6242600-6243800	Active TSS	Brain Cingulate Gyrus	brain
16	chr10:6242600-6243800	Active TSS	Thymus	Thymus
17	chr10:6242600-6243800	Active TSS	GM12878-XiMat	blood
18	chr10:6242600-6244000	Active TSS	Brain Angular Gyrus	brain
19	chr10:6242600-6244000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr10:6242600-6244000	Active TSS	Rectal Smooth Muscle	rectum
21	chr10:6242600-6244000	Active TSS	HepG2	liver
22	chr10:6242600-6244200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr10:6242600-6244600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr10:6242600-6244600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr10:6242600-6244800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr10:6242600-6244800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr10:6242600-6246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:6242800-6243600	Active TSS	Small Intestine	intestine
29	chr10:6242800-6243800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr10:6242800-6243800	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr10:6242800-6243800	Active TSS	NHDF-Ad	bronchial
32	chr10:6242800-6244000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:6242800-6244000	Active TSS	Brain Anterior Caudate	brain
34	chr10:6242800-6244000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:6242800-6244000	Active TSS	Brain Substantia Nigra	brain
36	chr10:6242800-6244800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:6242800-6244800	Flanking Active TSS	Colonic Mucosa	Colon
38	chr10:6242800-6245400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr10:6242800-6245400	Flanking Active TSS	HMEC	breast
40	chr10:6242800-6246400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr10:6242800-6246400	Active TSS	Colon Smooth Muscle	Colon
42	chr10:6242800-6246400	Active TSS	Ovary	ovary
43	chr10:6242800-6246600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr10:6242800-6246600	Active TSS	Psoas Muscle	Psoas
45	chr10:6242800-6247000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr10:6242800-6247400	Active TSS	Fetal Kidney	kidney
47	chr10:6242800-6247800	Active TSS	Aorta	Aorta
48	chr10:6243000-6243600	Active TSS	Right Ventricle	heart
49	chr10:6243000-6243800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:6243000-6243800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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