Variant report

Variant	rs193256210
Chromosome Location	chr10:6243985-6243986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr10:6242644-6247076	SK-N-SH	brain:	n/a	n/a
2	HEY1	chr10:6242414-6245097	HepG2	liver:	n/a	chr10:6243015-6243030 chr10:6243778-6243793
3	TCF12	chr10:6243574-6247500	A549	lung:	n/a	chr10:6244120-6244127 chr10:6244121-6244131
4	MAX	chr10:6242660-6244139	HepG2	liver:	n/a	chr10:6243866-6243875
5	RAD21	chr10:6243486-6246230	SK-N-SH	brain:	n/a	chr10:6244125-6244135
6	POLR2A	chr10:6243564-6244098	K562	blood:	n/a	n/a
7	CTCF	chr10:6243860-6244010	HPF	lung:	n/a	n/a
8	BCL3	chr10:6243556-6244089	A549	lung:	n/a	n/a
9	MAX	chr10:6242532-6244027	GM12878	blood:	n/a	chr10:6243866-6243875
10	SMC3	chr10:6242512-6247173	SK-N-SH	brain:	n/a	chr10:6245922-6245932 chr10:6243015-6243025
11	PML	chr10:6243932-6245305	GM12878	blood:	n/a	n/a
12	MXI1	chr10:6243449-6244056	IMR90	lung:	n/a	n/a
13	POLR2A	chr10:6243517-6244422	HepG2	liver:	n/a	n/a
14	RUNX3	chr10:6243509-6244011	GM12878	blood:	n/a	n/a
15	CTCF	chr10:6243513-6247466	A549	lung:	n/a	chr10:6244171-6244184 chr10:6246034-6246047 chr10:6245938-6245951 chr10:6246241-6246254 chr10:6245941-6245954
16	MXI1	chr10:6243049-6244069	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:6242428-6245381	U87	brain:	n/a	n/a
18	EBF1	chr10:6243531-6244086	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:6242869-6244029	H1-neurons	neurons:	n/a	n/a
20	MYBL2	chr10:6243515-6243992	HepG2	liver:	n/a	n/a
21	POLR2A	chr10:6243542-6244036	SK-N-MC	brain:	n/a	n/a
22	MAX	chr10:6243434-6244095	ECC-1	luminal epithelium:	n/a	chr10:6243866-6243875
23	POLR2A	chr10:6243392-6244020	GM12892	blood:	n/a	n/a
24	MAX	chr10:6242769-6246556	A549	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
25	CTCF	chr10:6243840-6243990	K562	blood:	n/a	n/a
26	POLR2A	chr10:6243102-6245702	HepG2	liver:	n/a	n/a
27	MAX	chr10:6242629-6244096	MCF-7	breast:	n/a	chr10:6243866-6243875
28	POU2F2	chr10:6243442-6244016	GM12878	blood:	n/a	n/a
29	MAX	chr10:6243530-6244087	MCF-7	breast:	n/a	chr10:6243866-6243875
30	SIN3A	chr10:6243532-6247000	H1-hESC	embryonic stem cell:	n/a	chr10:6244188-6244202 chr10:6246143-6246154
31	MAX	chr10:6242672-6244023	HepG2	liver:	n/a	chr10:6243866-6243875
32	POLR2A	chr10:6243472-6244066	HUVEC	blood vessel:	n/a	n/a
33	WRNIP1	chr10:6243962-6244112	GM12878	blood:	n/a	n/a
34	ZNF263	chr10:6243542-6245751	HEK293-T-REx	kidney:	n/a	chr10:6244320-6244329
35	POLR2A	chr10:6242449-6247290	GM12878	blood:	n/a	n/a
36	CREB1	chr10:6243395-6244084	HepG2	liver:	n/a	n/a
37	MAX	chr10:6243461-6244048	SK-N-SH	brain:	n/a	chr10:6243866-6243875
38	MAX	chr10:6243446-6244028	ECC-1	luminal epithelium:	n/a	chr10:6243866-6243875
39	STAT5A	chr10:6243577-6244022	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:6243415-6245580	U87	brain:	n/a	n/a
41	MTA3	chr10:6243501-6245190	GM12878	blood:	n/a	n/a
42	MAX	chr10:6243451-6244063	H1-hESC	embryonic stem cell:	n/a	chr10:6243866-6243875
43	E2F6	chr10:6243436-6244170	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	CTBP2	chr10:6243577-6245709	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr10:6242566-6246082	Raji	blood:	n/a	n/a
47	MAX	chr10:6242633-6247414	A549	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
48	CTCF	chr10:6243900-6244050	NHLF	lung:	n/a	n/a
49	CHD2	chr10:6242824-6245522	GM12878	blood:	n/a	n/a
50	HA-E2F1	chr10:6242708-6244010	MCF-7	breast:	n/a	chr10:6243128-6243140

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:6243955-6244005	H1-hESC	embryonic stem cell:	embryo
2	chr10:6243955-6244005	Hepatocyte	liver:	n/a
3	chr10:6243955-6244005	NT2-D1	testis:	n/a
4	chr10:6243955-6244005	GM12892	blood:	n/a
5	chr10:6243955-6244005	Jurkat	blood:	n/a
6	chr10:6243955-6244005	HCF	heart:	n/a
7	chr10:6243955-6244005	HRPEpiC	eye:	n/a
8	chr10:6243955-6244005	AG04449	skin:	fetal
9	chr10:6243955-6244005	SKMC	muscle:	n/a
10	chr10:6243955-6244005	GM19239	blood:	n/a
11	chr10:6243955-6244005	HCT-116	colon:	n/a
12	chr10:6243955-6244005	PrEC	prostate:	n/a
13	chr10:6243955-6244005	AG09319	gingival:	n/a
14	chr10:6243955-6244005	ProgFib	skin:	n/a
15	chr10:6243955-6244005	SK-N-MC	brain:	n/a
16	chr10:6243955-6244005	HEEpiC	esophagus:	n/a
17	chr10:6243955-6244005	HCPEpiC	choroid plexus:	n/a
18	chr10:6243955-6244005	U87	brain:	n/a
19	chr10:6243955-6244005	GM12878	blood:	n/a
20	chr10:6243955-6244005	PFSK-1	brain:	n/a
21	chr10:6243955-6244005	SK-N-SH	brain:	n/a
22	chr10:6243955-6244005	BJ	skin:	n/a
23	chr10:6243955-6244005	MCF-7	breast:	n/a
24	chr10:6243955-6244005	HEK293	kidney:	embryo
25	chr10:6243955-6244005	NHBE	bronchial:	n/a
26	chr10:6243955-6244005	NHDF-neo	bronchial:	n/a
27	chr10:6243955-6244005	HMEC	breast:	n/a
28	chr10:6243955-6244005	HPAEpiC	pulmonary alveolar:	n/a
29	chr10:6243955-6244005	HL-60	blood:	n/a
30	chr10:6243955-6244005	AG10803	skin:	n/a
31	chr10:6243955-6244005	LNCaP	prostate:	n/a
32	chr10:6243955-6244005	RPTEC	kidney:	n/a
33	chr10:6243955-6244005	Caco-2	colon:	n/a
34	chr10:6243955-6244005	HRCEpiC	kidney:	n/a
35	chr10:6243955-6244005	NH-A	brain:	n/a
36	chr10:6243955-6244005	HAEpiC	amniotic membrane:	n/a
37	chr10:6243955-6244005	AG04450	lung:	fetal
38	chr10:6243955-6244005	NB4	blood:	n/a
39	chr10:6243955-6244005	T-47D	breast:	n/a
40	chr10:6243955-6244005	SK-N-SH_RA	brain:	n/a
41	chr10:6243955-6244005	HIPEpiC	eye:	n/a
42	chr10:6243955-6244005	HUVEC	blood vessel:	n/a
43	chr10:6243955-6244005	A549	lung:	n/a
44	chr10:6243955-6244005	HNPCEpiC	eye:	n/a
45	chr10:6243955-6244005	HCM	heart:	n/a
46	chr10:6243955-6244005	Hela-S3	cervix:	n/a
47	chr10:6243955-6244005	ovcar-3	ovarian:	n/a
48	chr10:6243955-6244005	AG09309	skin:	n/a
49	chr10:6243955-6244005	K562	blood:	n/a
50	chr10:6243955-6244005	MCF10A-Er-Src	breast:	n/a

(count:19 , 50 per page) page: 1

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	chr10:6243696..6246547-chr17:56707857..56709473,2	MCF-7	breast:
5	chr10:6152733..6154775-chr10:6241861..6244257,2	K562	blood:
6	chr10:5935195..5937102-chr10:6243588..6245241,2	MCF-7	breast:
7	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
8	chr10:6149065..6151002-chr10:6243111..6244731,2	K562	blood:
9	chr10:6137316..6139736-chr10:6243153..6245060,3	MCF-7	breast:
10	chr10:6243668..6247308-chr10:6319585..6323356,5	MCF-7	breast:
11	chr10:6149017..6157788-chr10:6241652..6246346,17	MCF-7	breast:
12	chr10:6242187..6248014-chr10:6262246..6271624,18	MCF-7	breast:
13	chr10:6128377..6132115-chr10:6241834..6247197,6	MCF-7	breast:
14	chr10:6149112..6154904-chr10:6241492..6247373,13	MCF-7	breast:
15	chr10:6242059..6244389-chr6:31867421..31869441,2	MCF-7	breast:
16	chr10:6242978..6244543-chr10:129751150..129752763,2	MCF-7	breast:
17	chr10:6242075..6244740-chr10:27530620..27532882,2	MCF-7	breast:
18	chr10:6237461..6239091-chr10:6241197..6244129,2	K562	blood:
19	chr10:6242739..6248482-chr10:6257769..6263853,7	MCF-7	breast:

No data

Variant related genes	Relation type
PFKFB3	TF binding region
PFKFB3	CpG island
ENSG00000170525	Chromatin interaction
ENSG00000263628	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000215244	Chromatin interaction
ENSG00000166278	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	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: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	chr10:6242200-6244000	Enhancers	Fetal Heart	heart
3	chr10:6242400-6244000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:6242400-6244600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr10:6242400-6244600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:6242400-6244800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:6242600-6244000	Active TSS	Brain Angular Gyrus	brain
8	chr10:6242600-6244000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr10:6242600-6244000	Active TSS	Rectal Smooth Muscle	rectum
10	chr10:6242600-6244000	Active TSS	HepG2	liver
11	chr10:6242600-6244200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr10:6242600-6244600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr10:6242600-6244600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr10:6242600-6244800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr10:6242600-6244800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr10:6242600-6246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:6242800-6244000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:6242800-6244000	Active TSS	Brain Anterior Caudate	brain
19	chr10:6242800-6244000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:6242800-6244000	Active TSS	Brain Substantia Nigra	brain
21	chr10:6242800-6244800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:6242800-6244800	Flanking Active TSS	Colonic Mucosa	Colon
23	chr10:6242800-6245400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr10:6242800-6245400	Flanking Active TSS	HMEC	breast
25	chr10:6242800-6246400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr10:6242800-6246400	Active TSS	Colon Smooth Muscle	Colon
27	chr10:6242800-6246400	Active TSS	Ovary	ovary
28	chr10:6242800-6246600	Active TSS	Placenta Amnion	Placenta Amnion
29	chr10:6242800-6246600	Active TSS	Psoas Muscle	Psoas
30	chr10:6242800-6247000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr10:6242800-6247400	Active TSS	Fetal Kidney	kidney
32	chr10:6242800-6247800	Active TSS	Aorta	Aorta
33	chr10:6243000-6244000	Flanking Active TSS	Fetal Brain Female	brain
34	chr10:6243000-6244000	Active TSS	A549	lung
35	chr10:6243000-6244200	Active TSS	Gastric	stomach
36	chr10:6243000-6244800	Active TSS	Right Atrium	heart
37	chr10:6243000-6246600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr10:6243200-6244000	Active TSS	Fetal Lung	lung
39	chr10:6243200-6244200	Active TSS	Esophagus	oesophagus
40	chr10:6243200-6244200	Active TSS	Left Ventricle	heart
41	chr10:6243200-6244200	Active TSS	Pancreas	Pancrea
42	chr10:6243200-6244200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr10:6243200-6244400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:6243200-6244400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr10:6243200-6244800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr10:6243400-6244000	Enhancers	Fetal Brain Male	brain
47	chr10:6243600-6244000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:6243600-6244200	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr10:6243600-6244200	Enhancers	Small Intestine	intestine
50	chr10:6243600-6244200	Enhancers	K562	blood

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