Variant report

Variant	rs550117443
Chromosome Location	chr10:6242810-6242811
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	BHLHE40	chr10:6242736-6242936	K562	blood:	n/a	n/a
2	RCOR1	chr10:6242422-6243226	GM12878	blood:	n/a	n/a
3	RAD21	chr10:6242738-6242857	IMR90	lung:	n/a	n/a
4	POLR2A	chr10:6242664-6242980	K562	blood:	n/a	n/a
5	MXI1	chr10:6242644-6247076	SK-N-SH	brain:	n/a	n/a
6	HEY1	chr10:6242414-6245097	HepG2	liver:	n/a	chr10:6243015-6243030 chr10:6243778-6243793
7	RUNX3	chr10:6242784-6243116	GM12878	blood:	n/a	n/a
8	MAX	chr10:6242660-6244139	HepG2	liver:	n/a	chr10:6243866-6243875
9	CHD1	chr10:6242741-6242935	GM12878	blood:	n/a	n/a
10	EP300	chr10:6242616-6242957	SK-N-SH_RA	brain:	n/a	chr10:6242671-6242680
11	POLR2A	chr10:6242623-6243363	U87	brain:	n/a	n/a
12	RCOR1	chr10:6242671-6242998	K562	blood:	n/a	n/a
13	MAX	chr10:6242532-6244027	GM12878	blood:	n/a	chr10:6243866-6243875
14	SMC3	chr10:6242512-6247173	SK-N-SH	brain:	n/a	chr10:6245922-6245932 chr10:6243015-6243025
15	TCF7L2	chr10:6242696-6243059	MCF-7	breast:	n/a	n/a
16	MAZ	chr10:6242398-6243967	GM12878	blood:	n/a	chr10:6243866-6243875
17	NR3C1	chr10:6242610-6243012	A549	lung:	n/a	chr10:6242716-6242734 chr10:6242718-6242732 chr10:6242717-6242733 chr10:6242712-6242738 chr10:6242717-6242733 chr10:6242712-6242738
18	POLR2A	chr10:6242647-6243029	HepG2	liver:	n/a	n/a
19	POLR2A	chr10:6242428-6245381	U87	brain:	n/a	n/a
20	SIN3A	chr10:6242783-6243104	GM12878	blood:	n/a	chr10:6243078-6243091
21	SIN3A	chr10:6242710-6243261	H1-hESC	embryonic stem cell:	n/a	chr10:6243078-6243091
22	ZNF263	chr10:6242718-6243305	HEK293-T-REx	kidney:	n/a	n/a
23	MAZ	chr10:6242697-6242931	K562	blood:	n/a	n/a
24	RUNX3	chr10:6242636-6243071	GM12878	blood:	n/a	n/a
25	GATA2	chr10:6242693-6243023	SH-SY5Y	brain:	n/a	n/a
26	MAX	chr10:6242769-6246556	A549	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
27	FOXA1	chr10:6242638-6243022	HepG2	liver:	n/a	n/a
28	MXI1	chr10:6242690-6242938	HepG2	liver:	n/a	n/a
29	POLR2A	chr10:6242662-6243413	GM12878	blood:	n/a	n/a
30	CTCF	chr10:6242680-6242830	GM12864	blood:	n/a	n/a
31	MAFK	chr10:6242661-6242909	HepG2	liver:	n/a	n/a
32	MAX	chr10:6242629-6244096	MCF-7	breast:	n/a	chr10:6243866-6243875
33	EP300	chr10:6242786-6242938	HepG2	liver:	n/a	n/a
34	ELF1	chr10:6242643-6243379	GM12878	blood:	n/a	n/a
35	CREB1	chr10:6242744-6243222	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr10:6242704-6242939	HUVEC	blood vessel:	n/a	n/a
37	MAX	chr10:6242672-6244023	HepG2	liver:	n/a	chr10:6243866-6243875
38	POU2F2	chr10:6242729-6243420	GM12878	blood:	n/a	chr10:6243109-6243121
39	POLR2A	chr10:6242449-6247290	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:6242554-6243363	U87	brain:	n/a	n/a
41	POLR2A	chr10:6242707-6243091	HepG2	liver:	n/a	n/a
42	REST	chr10:6242663-6243061	A549	lung:	n/a	n/a
43	POLR2A	chr10:6242782-6242893	MCF-7	breast:	n/a	n/a
44	EBF1	chr10:6242761-6242955	GM12878	blood:	n/a	n/a
45	MAFK	chr10:6242738-6242920	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr10:6242683-6242992	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr10:6242617-6243968	A549	lung:	n/a	n/a
48	MAZ	chr10:6242545-6247296	IMR90	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
49	POLR2A	chr10:6242566-6246082	Raji	blood:	n/a	n/a
50	MAX	chr10:6242633-6247414	A549	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183

No.	Distal block	Cell Line	Cell type
1	chr10:6241225..6242996-chr3:9850651..9852489,2	MCF-7	breast:
2	chr10:6129825..6133257-chr10:6241985..6247329,10	MCF-7	breast:
3	chr10:6183735..6189299-chr10:6241759..6246920,10	MCF-7	breast:
4	chr10:6236526..6239091-chr10:6241197..6242988,2	K562	blood:
5	chr10:6193518..6195996-chr10:6241964..6244930,2	MCF-7	breast:
6	chr10:6152733..6154775-chr10:6241861..6244257,2	K562	blood:
7	chr10:6242271..6242899-chr10:6339702..6340282,2	MCF-7	breast:
8	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
9	chr10:6239790..6243643-chr10:6244316..6247669,6	K562	blood:
10	chr10:6234379..6237357-chr10:6241010..6243643,2	K562	blood:
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	chr10:6242075..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
ENSG00000214021	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000263628	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000166278	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	chr10:6241800-6243000	Enhancers	Stomach Mucosa	stomach
4	chr10:6241800-6243200	Flanking Active TSS	Dnd41	blood
5	chr10:6242000-6243200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr10:6242000-6243200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr10:6242200-6243200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr10:6242200-6243200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr10:6242200-6243600	Active TSS	Stomach Smooth Muscle	stomach
10	chr10:6242200-6244000	Enhancers	Fetal Heart	heart
11	chr10:6242400-6243000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr10:6242400-6243200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr10:6242400-6243200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr10:6242400-6243200	Enhancers	K562	blood
15	chr10:6242400-6243400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr10:6242400-6243400	Flanking Active TSS	HUVEC	blood vessel
17	chr10:6242400-6244000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:6242400-6244600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr10:6242400-6244600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:6242400-6244800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:6242600-6243000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:6242600-6243000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr10:6242600-6243000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:6242600-6243000	Flanking Active TSS	A549	lung
25	chr10:6242600-6243000	Flanking Bivalent TSS/Enh	NH-A	brain
26	chr10:6242600-6243200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:6242600-6243200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:6242600-6243200	Flanking Active TSS	Pancreas	Pancrea
29	chr10:6242600-6243400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr10:6242600-6243400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr10:6242600-6243400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:6242600-6243400	Flanking Active TSS	Fetal Thymus	thymus
33	chr10:6242600-6243800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr10:6242600-6243800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr10:6242600-6243800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:6242600-6243800	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr10:6242600-6243800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:6242600-6243800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr10:6242600-6243800	Active TSS	Brain Cingulate Gyrus	brain
40	chr10:6242600-6243800	Active TSS	Thymus	Thymus
41	chr10:6242600-6243800	Active TSS	GM12878-XiMat	blood
42	chr10:6242600-6244000	Active TSS	Brain Angular Gyrus	brain
43	chr10:6242600-6244000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr10:6242600-6244000	Active TSS	Rectal Smooth Muscle	rectum
45	chr10:6242600-6244000	Active TSS	HepG2	liver
46	chr10:6242600-6244200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr10:6242600-6244600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr10:6242600-6244600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr10:6242600-6244800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr10:6242600-6244800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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