Variant report

Variant	rs143380391
Chromosome Location	chr10:6244183-6244184
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	CREB1	chr10:6244170-6245744	HepG2	liver:	n/a	n/a
2	MXI1	chr10:6242644-6247076	SK-N-SH	brain:	n/a	n/a
3	HEY1	chr10:6242414-6245097	HepG2	liver:	n/a	chr10:6243015-6243030 chr10:6243778-6243793
4	TCF12	chr10:6243574-6247500	A549	lung:	n/a	chr10:6244120-6244127 chr10:6244121-6244131
5	RAD21	chr10:6243486-6246230	SK-N-SH	brain:	n/a	chr10:6244125-6244135
6	MAX	chr10:6244130-6246578	MCF-7	breast:	n/a	chr10:6244170-6244180 chr10:6244173-6244183
7	SMC3	chr10:6242512-6247173	SK-N-SH	brain:	n/a	chr10:6245922-6245932 chr10:6243015-6243025
8	PML	chr10:6243932-6245305	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:6243517-6244422	HepG2	liver:	n/a	n/a
10	CTCF	chr10:6243513-6247466	A549	lung:	n/a	chr10:6244171-6244184 chr10:6246034-6246047 chr10:6245938-6245951 chr10:6246241-6246254 chr10:6245941-6245954
11	POLR2A	chr10:6242428-6245381	U87	brain:	n/a	n/a
12	MAX	chr10:6242769-6246556	A549	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
13	POLR2A	chr10:6243102-6245702	HepG2	liver:	n/a	n/a
14	MXI1	chr10:6244137-6247434	IMR90	lung:	n/a	n/a
15	CTCF	chr10:6244180-6244330	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr10:6244160-6244310	HBMEC	blood vessel:	n/a	chr10:6244171-6244184
17	SIN3A	chr10:6243532-6247000	H1-hESC	embryonic stem cell:	n/a	chr10:6244188-6244202 chr10:6246143-6246154
18	BCL3	chr10:6244149-6246037	A549	lung:	n/a	chr10:6244163-6244172 chr10:6244326-6244339
19	ZNF263	chr10:6243542-6245751	HEK293-T-REx	kidney:	n/a	chr10:6244320-6244329
20	POLR2A	chr10:6242449-6247290	GM12878	blood:	n/a	n/a
21	CHD1	chr10:6244151-6247539	IMR90	lung:	n/a	n/a
22	POLR2A	chr10:6243415-6245580	U87	brain:	n/a	n/a
23	MTA3	chr10:6243501-6245190	GM12878	blood:	n/a	n/a
24	MAX	chr10:6244157-6245188	HepG2	liver:	n/a	chr10:6244170-6244180 chr10:6244173-6244183
25	JUN	chr10:6244018-6245821	K562	blood:	n/a	n/a
26	SIX5	chr10:6244005-6245218	A549	lung:	n/a	n/a
27	CTCF	chr10:6244131-6245098	MCF-7	breast:	n/a	chr10:6244171-6244184
28	CTCF	chr10:6244120-6244270	AoAF	blood vessel:	n/a	chr10:6244171-6244184
29	MAZ	chr10:6242545-6247296	IMR90	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
30	CTBP2	chr10:6243577-6245709	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr10:6242566-6246082	Raji	blood:	n/a	n/a
32	MAX	chr10:6242633-6247414	A549	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
33	CHD2	chr10:6242824-6245522	GM12878	blood:	n/a	n/a
34	POLR2A	chr10:6242464-6245703	GM12878	blood:	n/a	n/a
35	CTCF	chr10:6244120-6244270	SAEC	small airway:	n/a	chr10:6244171-6244184
36	CTCF	chr10:6244040-6244190	GM12874	blood:	n/a	chr10:6244171-6244184
37	CTCF	chr10:6242809-6246305	SK-N-SH	brain:	n/a	chr10:6244171-6244184 chr10:6246034-6246047 chr10:6242964-6242974 chr10:6245938-6245951 chr10:6246241-6246254 chr10:6245941-6245954
38	CTCF	chr10:6244080-6244230	HMEC	breast:	n/a	chr10:6244171-6244184
39	POLR2A	chr10:6243415-6245798	U87	brain:	n/a	n/a
40	ELF1	chr10:6244014-6245805	GM12878	blood:	n/a	n/a
41	POLR2A	chr10:6244173-6247852	GM12878	blood:	n/a	n/a
42	POLR2A	chr10:6242434-6245898	U87	brain:	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	chr10:6243696..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	chr10:6244071..6246577-chr11:62606915..62609638,2	MCF-7	breast:
17	chr10:6242978..6244543-chr10:129751150..129752763,2	MCF-7	breast:
18	chr10:6242075..6244740-chr10:27530620..27532882,2	MCF-7	breast:
19	chr10:5930925..5933506-chr10:6244058..6246915,2	MCF-7	breast:
20	chr10:6242739..6248482-chr10:6257769..6263853,7	MCF-7	breast:

Variant related genes	Relation type
PFKFB3	TF binding region
ENSG00000170525	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000215244	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000263628	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:126 , 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	chr10:6242400-6244600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr10:6242400-6244600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:6242400-6244800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:6242600-6244200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr10:6242600-6244600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr10:6242600-6244600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr10:6242600-6244800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr10:6242600-6244800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr10:6242600-6246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:6242800-6244800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:6242800-6244800	Flanking Active TSS	Colonic Mucosa	Colon
13	chr10:6242800-6245400	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr10:6242800-6245400	Flanking Active TSS	HMEC	breast
15	chr10:6242800-6246400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr10:6242800-6246400	Active TSS	Colon Smooth Muscle	Colon
17	chr10:6242800-6246400	Active TSS	Ovary	ovary
18	chr10:6242800-6246600	Active TSS	Placenta Amnion	Placenta Amnion
19	chr10:6242800-6246600	Active TSS	Psoas Muscle	Psoas
20	chr10:6242800-6247000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr10:6242800-6247400	Active TSS	Fetal Kidney	kidney
22	chr10:6242800-6247800	Active TSS	Aorta	Aorta
23	chr10:6243000-6244200	Active TSS	Gastric	stomach
24	chr10:6243000-6244800	Active TSS	Right Atrium	heart
25	chr10:6243000-6246600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr10:6243200-6244200	Active TSS	Esophagus	oesophagus
27	chr10:6243200-6244200	Active TSS	Left Ventricle	heart
28	chr10:6243200-6244200	Active TSS	Pancreas	Pancrea
29	chr10:6243200-6244200	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr10:6243200-6244400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:6243200-6244400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr10:6243200-6244800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr10:6243600-6244200	Flanking Bivalent TSS/Enh	Placenta	Placenta
34	chr10:6243600-6244200	Enhancers	Small Intestine	intestine
35	chr10:6243600-6244200	Enhancers	K562	blood
36	chr10:6243600-6244400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:6243600-6244600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:6243600-6244600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:6243600-6244600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:6243600-6244600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:6243600-6244600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr10:6243600-6244600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr10:6243600-6244600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr10:6243600-6244600	Flanking Active TSS	Right Ventricle	heart
45	chr10:6243600-6244600	Flanking Active TSS	HSMM	muscle
46	chr10:6243600-6244600	Flanking Active TSS	HUVEC	blood vessel
47	chr10:6243600-6244600	Flanking Active TSS	NH-A	brain
48	chr10:6243600-6244600	Flanking Bivalent TSS/Enh	Osteobl	bone
49	chr10:6243600-6244800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:6243600-6244800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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