Variant report

Variant	rs7975780
Chromosome Location	chr12:50898754-50898755
allele	A/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	chr12:50898316-50899632	A549	lung:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
2	ELF1	chr12:50898599-50899150	K562	blood:	n/a	n/a
3	MAX	chr12:50898500-50898779	H1-hESC	embryonic stem cell:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
4	RAD21	chr12:50898232-50899903	HCT-116	colon:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
5	CTCF	chr12:50898544-50898798	H1-hESC	embryonic stem cell:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
6	CTCF	chr12:50898497-50898819	ECC-1	luminal epithelium:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
7	POLR2A	chr12:50898667-50898946	GM12878	blood:	n/a	n/a
8	STAT1	chr12:50898549-50899062	GM12878	blood:	n/a	chr12:50899033-50899045
9	SMC3	chr12:50898258-50900210	SK-N-SH	brain:	n/a	chr12:50898672-50898686
10	MAZ	chr12:50898478-50899639	K562	blood:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
11	POLR2A	chr12:50898601-50899109	A549	lung:	n/a	n/a
12	CTCF	chr12:50898529-50898800	GM10248	blood:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
13	GABPA	chr12:50898544-50899406	H1-hESC	embryonic stem cell:	n/a	chr12:50898746-50898755 chr12:50899092-50899101
14	POLR2A	chr12:50898596-50899459	GM15510	blood:	n/a	n/a
15	TAF1	chr12:50898546-50899413	HepG2	liver:	n/a	n/a
16	FOXM1	chr12:50898346-50899282	GM12878	blood:	n/a	n/a
17	FOS	chr12:50898571-50898776	MCF10A-Er-Src	breast:	n/a	chr12:50898745-50898754
18	CEBPB	chr12:50898496-50899019	Hela-S3	cervix:	n/a	chr12:50898583-50898595
19	USF1	chr12:50898456-50899052	H1-hESC	embryonic stem cell:	n/a	chr12:50898764-50898775 chr12:50898763-50898776 chr12:50898765-50898774 chr12:50898766-50898775 chr12:50898765-50898774 chr12:50898759-50898780 chr12:50898819-50898835 chr12:50898764-50898773
20	CTCF	chr12:50898470-50899234	IMR90	lung:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
21	TAL1	chr12:50898676-50898876	K562	blood:	n/a	n/a
22	RAD21	chr12:50898249-50899846	HCT-116	colon:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
23	CTCF	chr12:50898521-50898822	GM12891	blood:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
24	BCLAF1	chr12:50898443-50900078	GM12878	blood:	n/a	chr12:50898747-50898756 chr12:50898822-50898835 chr12:50898742-50898755
25	STAT5A	chr12:50898418-50899712	GM12878	blood:	n/a	chr12:50899438-50899450 chr12:50899033-50899045
26	POLR2A	chr12:50898574-50899444	K562	blood:	n/a	n/a
27	USF2	chr12:50898568-50898946	H1-hESC	embryonic stem cell:	n/a	chr12:50898763-50898776 chr12:50898765-50898774 chr12:50898766-50898775 chr12:50898765-50898774 chr12:50898759-50898780 chr12:50898819-50898835 chr12:50898764-50898773
28	POLR2A	chr12:50898694-50899097	GM12892	blood:	n/a	n/a
29	POLR2A	chr12:50898600-50899516	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:50898493-50899079	HCT-116	colon:	n/a	n/a
31	TAF7	chr12:50898576-50899012	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:50898641-50898990	A549	lung:	n/a	n/a
33	GABPA	chr12:50898674-50899107	A549	lung:	n/a	chr12:50898746-50898755 chr12:50899092-50899101
34	POLR2A	chr12:50898514-50899127	HUVEC	blood vessel:	n/a	n/a
35	BHLHE40	chr12:50898480-50899225	GM12878	blood:	n/a	chr12:50898763-50898776 chr12:50898765-50898774 chr12:50898766-50898775 chr12:50898765-50898774 chr12:50898759-50898780 chr12:50898819-50898835 chr12:50898764-50898773
36	TBP	chr12:50898567-50899367	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr12:50898328-50899074	HCT-116	colon:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
38	MAX	chr12:50898578-50899246	HepG2	liver:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
39	CTCF	chr12:50898522-50898836	NHEK	skin:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
40	POLR2A	chr12:50898574-50899642	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:50898510-50899488	MCF-7	breast:	n/a	n/a
42	RAD21	chr12:50898424-50899134	SK-N-SH_RA	brain:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
43	CTCF	chr12:50898620-50898770	AG10803	skin:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
44	CTCF	chr12:50898430-50898842	ECC-1	luminal epithelium:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
45	CTCF	chr12:50898620-50898770	HUVEC	blood vessel:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
46	POLR2A	chr12:50898463-50899089	PANC-1	pancreas:	n/a	n/a
47	ATF3	chr12:50898599-50898883	HepG2	liver:	n/a	chr12:50898765-50898774 chr12:50898754-50898774 chr12:50898746-50898755
48	CTCF	chr12:50898475-50898795	H1-hESC	embryonic stem cell:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
49	SMC3	chr12:50898454-50900148	GM12878	blood:	n/a	chr12:50898672-50898686
50	MYC	chr12:50898598-50899174	MCF-7	breast:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50898744-50898794	HRCEpiC	kidney:	n/a
2	chr12:50898751-50898801	U87	brain:	n/a
3	chr12:50898744-50898794	K562	blood:	n/a
4	chr12:50898744-50898794	HRE	kidney:	n/a
5	chr12:50898744-50898794	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:50898751-50898801	T-47D	breast:	n/a
7	chr12:50898744-50898794	T-47D	breast:	n/a
8	chr12:50898751-50898801	ECC-1	luminal epithelium:	n/a
9	chr12:50898751-50898801	SK-N-MC	brain:	n/a
10	chr12:50898744-50898794	HCT-116	colon:	n/a
11	chr12:50898744-50898794	HCF	heart:	n/a
12	chr12:50898751-50898801	BJ	skin:	n/a
13	chr12:50898751-50898801	HPAEpiC	pulmonary alveolar:	n/a
14	chr12:50898744-50898794	NB4	blood:	n/a
15	chr12:50898751-50898801	SK-N-SH	brain:	n/a
16	chr12:50898744-50898794	Jurkat	blood:	n/a
17	chr12:50898744-50898794	GM06990	blood:	n/a
18	chr12:50898744-50898794	BE2_C	brain:	n/a
19	chr12:50898744-50898794	SK-N-SH	brain:	n/a
20	chr12:50898751-50898801	PFSK-1	brain:	n/a
21	chr12:50898744-50898794	CMK	blood:	n/a
22	chr12:50898744-50898794	LNCaP	prostate:	n/a
23	chr12:50898751-50898801	HRE	kidney:	n/a
24	chr12:50898744-50898794	MCF-7	breast:	n/a
25	chr12:50898744-50898794	HepG2	liver:	n/a
26	chr12:50898744-50898794	NHDF-neo	bronchial:	n/a
27	chr12:50898751-50898801	HUVEC	blood vessel:	n/a
28	chr12:50898751-50898801	NHDF-neo	bronchial:	n/a
29	chr12:50898751-50898801	AG04450	lung:	fetal
30	chr12:50898751-50898801	PANC-1	pancreas:	n/a
31	chr12:50898744-50898794	HEEpiC	esophagus:	n/a
32	chr12:50898751-50898801	HRCEpiC	kidney:	n/a
33	chr12:50898744-50898794	HCPEpiC	choroid plexus:	n/a
34	chr12:50898744-50898794	AG04450	lung:	fetal
35	chr12:50898744-50898794	Hela-S3	cervix:	n/a
36	chr12:50898751-50898801	SAEC	small airway:	n/a
37	chr12:50898744-50898794	PANC-1	pancreas:	n/a
38	chr12:50898751-50898801	CMK	blood:	n/a
39	chr12:50898751-50898801	HEEpiC	esophagus:	n/a
40	chr12:50898744-50898794	SAEC	small airway:	n/a
41	chr12:50898744-50898794	U87	brain:	n/a
42	chr12:50898744-50898794	HNPCEpiC	eye:	n/a
43	chr12:50898751-50898801	Caco-2	colon:	n/a
44	chr12:50898744-50898794	Caco-2	colon:	n/a
45	chr12:50898744-50898794	HL-60	blood:	n/a
46	chr12:50898744-50898794	MCF10A-Er-Src	breast:	n/a
47	chr12:50898744-50898794	SK-N-MC	brain:	n/a
48	chr12:50898751-50898801	HNPCEpiC	eye:	n/a
49	chr12:50898751-50898801	HCM	heart:	n/a
50	chr12:50898744-50898794	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:
2	chr12:50897525..50900115-chr12:51025935..51031272,7	MCF-7	breast:
3	chr12:50897880..50899909-chr12:51417990..51420226,2	MCF-7	breast:

Variant related genes	Relation type
DIP2B	TF binding region
DIP2B	CpG island
ENSG00000110911	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000207136	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3395665	chr12:50897710-50900258	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50898200-50898800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:50898200-50898800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:50898200-50899000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:50898200-50899000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:50898200-50899000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:50898200-50899400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:50898200-50899400	Active TSS	Primary hematopoietic stem cells	blood
8	chr12:50898200-50899400	Active TSS	Hela-S3	cervix
9	chr12:50898200-50899400	Active TSS	HUVEC	blood vessel
10	chr12:50898200-50899600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:50898200-50899600	Active TSS	Duodenum Mucosa	Duodenum
12	chr12:50898200-50899600	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:50898200-50899800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:50898200-50899800	Active TSS	Fetal Stomach	stomach
15	chr12:50898200-50899800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr12:50898200-50899800	Active TSS	Osteobl	bone
17	chr12:50898200-50900000	Active TSS	Colonic Mucosa	Colon
18	chr12:50898200-50900000	Active TSS	Fetal Intestine Small	intestine
19	chr12:50898200-50900200	Active TSS	Muscle Satellite Cultured Cells	--
20	chr12:50898200-50900400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:50898200-50900400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:50898200-50900400	Active TSS	Brain Anterior Caudate	brain
23	chr12:50898200-50900400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr12:50898200-50900400	Active TSS	Placenta	Placenta
25	chr12:50898200-50900800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr12:50898200-50900800	Active TSS	HMEC	breast
27	chr12:50898200-50902200	Active TSS	Brain Angular Gyrus	brain
28	chr12:50898400-50898800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr12:50898400-50898800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr12:50898400-50898800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:50898400-50898800	Flanking Active TSS	Fetal Thymus	thymus
32	chr12:50898400-50899000	Active TSS	Primary B cells from cord blood	blood
33	chr12:50898400-50899000	Active TSS	Brain Germinal Matrix	brain
34	chr12:50898400-50899200	Active TSS	Primary T cells from cord blood	blood
35	chr12:50898400-50899200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:50898400-50899400	Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr12:50898400-50899600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:50898400-50899600	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr12:50898400-50899600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:50898400-50899600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:50898400-50899600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr12:50898400-50899600	Active TSS	Colon Smooth Muscle	Colon
43	chr12:50898400-50899600	Active TSS	Fetal Intestine Large	intestine
44	chr12:50898400-50899600	Active TSS	Thymus	Thymus
45	chr12:50898400-50899800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr12:50898400-50899800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:50898400-50899800	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:50898400-50899800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:50898400-50899800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:50898400-50899800	Active TSS	Fetal Brain Male	brain

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