Variant report

Variant	rs12218879
Chromosome Location	chr10:6242703-6242704
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	RCOR1	chr10:6242422-6243226	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:6242664-6242980	K562	blood:	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	MAX	chr10:6242660-6244139	HepG2	liver:	n/a	chr10:6243866-6243875
6	MYC	chr10:6242652-6242731	HUVEC	blood vessel:	n/a	n/a
7	EP300	chr10:6242616-6242957	SK-N-SH_RA	brain:	n/a	chr10:6242671-6242680
8	POLR2A	chr10:6242623-6243363	U87	brain:	n/a	n/a
9	RCOR1	chr10:6242671-6242998	K562	blood:	n/a	n/a
10	MAX	chr10:6242532-6244027	GM12878	blood:	n/a	chr10:6243866-6243875
11	SMC3	chr10:6242512-6247173	SK-N-SH	brain:	n/a	chr10:6245922-6245932 chr10:6243015-6243025
12	TCF7L2	chr10:6242696-6243059	MCF-7	breast:	n/a	n/a
13	MAZ	chr10:6242398-6243967	GM12878	blood:	n/a	chr10:6243866-6243875
14	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
15	POLR2A	chr10:6242647-6243029	HepG2	liver:	n/a	n/a
16	POLR2A	chr10:6242428-6245381	U87	brain:	n/a	n/a
17	MAZ	chr10:6242697-6242931	K562	blood:	n/a	n/a
18	RUNX3	chr10:6242636-6243071	GM12878	blood:	n/a	n/a
19	GATA2	chr10:6242693-6243023	SH-SY5Y	brain:	n/a	n/a
20	FOXA1	chr10:6242638-6243022	HepG2	liver:	n/a	n/a
21	MXI1	chr10:6242690-6242938	HepG2	liver:	n/a	n/a
22	POLR2A	chr10:6242662-6243413	GM12878	blood:	n/a	n/a
23	CTCF	chr10:6242680-6242830	GM12864	blood:	n/a	n/a
24	MAFK	chr10:6242661-6242909	HepG2	liver:	n/a	n/a
25	MAX	chr10:6242629-6244096	MCF-7	breast:	n/a	chr10:6243866-6243875
26	ELF1	chr10:6242643-6243379	GM12878	blood:	n/a	n/a
27	MAX	chr10:6242672-6244023	HepG2	liver:	n/a	chr10:6243866-6243875
28	POLR2A	chr10:6242648-6242808	HepG2	liver:	n/a	n/a
29	POLR2A	chr10:6242449-6247290	GM12878	blood:	n/a	n/a
30	POLR2A	chr10:6242554-6243363	U87	brain:	n/a	n/a
31	REST	chr10:6242663-6243061	A549	lung:	n/a	n/a
32	SIN3AK20	chr10:6242683-6242992	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr10:6242617-6243968	A549	lung:	n/a	n/a
34	MAZ	chr10:6242545-6247296	IMR90	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
35	POLR2A	chr10:6242566-6246082	Raji	blood:	n/a	n/a
36	POLR2A	chr10:6242566-6242745	GM12878	blood:	n/a	n/a
37	MAX	chr10:6242633-6247414	A549	lung:	n/a	chr10:6244170-6244180 chr10:6243866-6243875 chr10:6244173-6244183
38	MTA3	chr10:6242669-6243199	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:6242464-6245703	GM12878	blood:	n/a	n/a
40	SIN3AK20	chr10:6242637-6242937	A549	lung:	n/a	n/a
41	MAFF	chr10:6242698-6242946	HepG2	liver:	n/a	n/a
42	POLR2A	chr10:6242611-6243035	HepG2	liver:	n/a	n/a
43	MAX	chr10:6242695-6243920	NB4	blood:	n/a	chr10:6243866-6243875
44	NR3C1	chr10:6242570-6242969	A549	lung:	n/a	chr10:6242716-6242734 chr10:6242718-6242732 chr10:6242717-6242733 chr10:6242712-6242738 chr10:6242717-6242733 chr10:6242712-6242738
45	PBX3	chr10:6242577-6243084	SK-N-SH	brain:	n/a	n/a
46	STAT5A	chr10:6242663-6243413	GM12878	blood:	n/a	chr10:6243105-6243117
47	POLR2A	chr10:6242434-6245898	U87	brain:	n/a	n/a

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:

Variant related genes	Relation type
PFKFB3	TF binding region
ENSG00000214021	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000263628	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:112 , 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	chr10:6222800-6242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:6234800-6242800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr10:6237400-6242800	Weak transcription	Aorta	Aorta
5	chr10:6237600-6242800	Weak transcription	Small Intestine	intestine
6	chr10:6237600-6243600	Weak transcription	HSMMtube	muscle
7	chr10:6237800-6242800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:6238000-6242800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:6238000-6242800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr10:6238400-6242800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:6238400-6242800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr10:6238600-6242800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:6238600-6242800	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:6238600-6242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:6239400-6242800	Weak transcription	Ovary	ovary
16	chr10:6239800-6242800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:6240000-6242800	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:6240800-6242800	Enhancers	Liver	Liver
19	chr10:6241000-6242800	Enhancers	Fetal Muscle Leg	muscle
20	chr10:6241200-6242800	Enhancers	Gastric	stomach
21	chr10:6241200-6242800	Enhancers	Left Ventricle	heart
22	chr10:6241200-6242800	Enhancers	Right Ventricle	heart
23	chr10:6241800-6242800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:6241800-6242800	Weak transcription	Right Atrium	heart
25	chr10:6241800-6243000	Enhancers	Stomach Mucosa	stomach
26	chr10:6241800-6243200	Flanking Active TSS	Dnd41	blood
27	chr10:6242000-6242800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:6242000-6242800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:6242000-6242800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:6242000-6242800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr10:6242000-6242800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr10:6242000-6243200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr10:6242000-6243200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr10:6242200-6242800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:6242200-6242800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:6242200-6242800	Enhancers	Esophagus	oesophagus
37	chr10:6242200-6242800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr10:6242200-6242800	Enhancers	Lung	lung
39	chr10:6242200-6242800	Enhancers	Spleen	Spleen
40	chr10:6242200-6242800	Enhancers	HMEC	breast
41	chr10:6242200-6243200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr10:6242200-6243200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr10:6242200-6243600	Active TSS	Stomach Smooth Muscle	stomach
44	chr10:6242200-6244000	Enhancers	Fetal Heart	heart
45	chr10:6242400-6242800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:6242400-6242800	Active TSS	Primary B cells from cord blood	blood
47	chr10:6242400-6242800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr10:6242400-6242800	Active TSS	Duodenum Mucosa	Duodenum
49	chr10:6242400-6242800	Enhancers	NHLF	lung
50	chr10:6242400-6243000	Enhancers	Sigmoid Colon	Sigmoid Colon

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