Variant report

Variant	rs191280524
Chromosome Location	chr12:122907454-122907455
allele	A/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	E2F6	chr12:122906710-122907789	K562	blood:	n/a	chr12:122906879-122906889 chr12:122907592-122907603
2	YY1	chr12:122907369-122907656	K562	blood:	n/a	n/a
3	NR2F2	chr12:122907414-122908850	K562	blood:	n/a	n/a
4	EP300	chr12:122906023-122907756	ECC-1	luminal epithelium:	n/a	chr12:122906987-122906996 chr12:122906945-122906961 chr12:122906590-122906599 chr12:122906880-122906889 chr12:122906548-122906564
5	POLR2A	chr12:122906422-122907551	GM15510	blood:	n/a	n/a
6	MTA3	chr12:122907377-122907840	GM12878	blood:	n/a	n/a
7	RCOR1	chr12:122907437-122908370	Hela-S3	cervix:	n/a	n/a
8	FOXA2	chr12:122907354-122907766	A549	lung:	n/a	n/a
9	STAT3	chr12:122907317-122907858	MCF10A-Er-Src	breast:	n/a	chr12:122907502-122907516 chr12:122907587-122907599 chr12:122907505-122907513 chr12:122907503-122907514
10	POLR2A	chr12:122906518-122908426	H1-neurons	neurons:	n/a	n/a
11	TAF1	chr12:122907313-122908308	H1-hESC	embryonic stem cell:	n/a	n/a
12	TBP	chr12:122907382-122908457	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr12:122907242-122907849	ECC-1	luminal epithelium:	n/a	n/a
14	E2F6	chr12:122907321-122908284	H1-hESC	embryonic stem cell:	n/a	chr12:122907592-122907603
15	POLR2A	chr12:122906371-122907736	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr12:122906083-122907882	K562	blood:	n/a	n/a
17	FOXM1	chr12:122907387-122907737	GM12878	blood:	n/a	n/a
18	MAX	chr12:122907447-122907709	A549	lung:	n/a	n/a
19	POLR2A	chr12:122905954-122907727	K562	blood:	n/a	n/a
20	TAF1	chr12:122907339-122908399	A549	lung:	n/a	n/a
21	POLR2A	chr12:122906505-122907733	A549	lung:	n/a	n/a
22	TCF12	chr12:122907290-122908706	A549	lung:	n/a	chr12:122908210-122908220
23	SIN3AK20	chr12:122906246-122907763	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr12:122906334-122907527	GM19099	blood:	n/a	n/a
25	BCL3	chr12:122907376-122908477	A549	lung:	n/a	chr12:122907453-122907462 chr12:122908089-122908098
26	POLR2A	chr12:122906367-122907729	MCF-7	breast:	n/a	n/a
27	E2F6	chr12:122906856-122907742	K562	blood:	n/a	chr12:122906879-122906889 chr12:122907592-122907603
28	POLR2A	chr12:122907317-122907901	HUVEC	blood vessel:	n/a	n/a
29	CEBPB	chr12:122907434-122907830	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:122906917-122907818	U87	brain:	n/a	n/a
31	ATF3	chr12:122907347-122907711	K562	blood:	n/a	n/a
32	TBP	chr12:122907423-122908446	Hela-S3	cervix:	n/a	n/a
33	RUNX3	chr12:122907324-122907635	GM12878	blood:	n/a	n/a
34	E2F1	chr12:122906038-122907784	Hela-S3	cervix:	n/a	chr12:122906135-122906146 chr12:122906879-122906889 chr12:122906397-122906412
35	POLR2A	chr12:122905815-122908385	Hela-S3	cervix:	n/a	n/a
36	JUND	chr12:122906051-122907868	A549	lung:	n/a	n/a
37	POLR2A	chr12:122906422-122907600	GM12892	blood:	n/a	n/a
38	POLR2A	chr12:122906570-122907664	K562	blood:	n/a	n/a
39	POLR2A	chr12:122905478-122908917	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr12:122905382-122908556	SK-N-SH	brain:	n/a	chr12:122908358-122908367
41	MAX	chr12:122907243-122908441	A549	lung:	n/a	chr12:122908038-122908047
42	STAT3	chr12:122907442-122907819	Hela-S3	cervix:	n/a	chr12:122907502-122907516 chr12:122907587-122907599 chr12:122907505-122907513 chr12:122907503-122907514
43	MAX	chr12:122907371-122907772	GM12878	blood:	n/a	n/a
44	E2F6	chr12:122907324-122907750	K562	blood:	n/a	chr12:122907592-122907603
45	POLR2A	chr12:122905364-122908744	MCF10A-Er-Src	breast:	n/a	n/a
46	CTCF	chr12:122905757-122907824	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr12:122905881-122908872	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr12:122905741-122908876	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr12:122906272-122907567	GM19193	blood:	n/a	n/a
50	POLR2A	chr12:122906164-122907490	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122906748..122909467-chr12:123010139..123012944,2	K562	blood:
2	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:
3	chr12:122882564..122887396-chr12:122904302..122908331,13	MCF-7	breast:
4	chr12:122888608..122890909-chr12:122907280..122910436,3	K562	blood:
5	chr12:122906376..122908610-chr12:123005657..123008137,3	MCF-7	breast:
6	chr12:122905580..122908414-chr12:122982278..122985321,3	K562	blood:
7	chr12:122906977..122907658-chr2:38977576..38978525,2	Hela-S3	cervix:
8	chr12:122906075..122908078-chr12:122966404..122968368,2	MCF-7	breast:
9	chr12:122907059..122907795-chr19:13264855..13265538,2	Hela-S3	cervix:
10	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
11	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:
12	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:
13	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:

Variant related genes	Relation type
CLIP1	TF binding region
ENSG00000115875	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000257097	Chromatin interaction
ENSG00000267598	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000184445	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	esv3406745	chr12:122905624-122908172	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv3438467	chr12:122906324-122908322	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122904400-122907600	Active TSS	HSMMtube	muscle
2	chr12:122905000-122907800	Active TSS	Esophagus	oesophagus
3	chr12:122905400-122908200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:122905600-122907600	Active TSS	NHLF	lung
5	chr12:122905600-122908200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:122905600-122908200	Active TSS	Right Ventricle	heart
7	chr12:122905600-122908400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:122905600-122908400	Active TSS	Left Ventricle	heart
9	chr12:122905800-122907600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:122905800-122907600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:122905800-122907600	Active TSS	Fetal Intestine Large	intestine
12	chr12:122905800-122907600	Active TSS	Pancreas	Pancrea
13	chr12:122905800-122907600	Active TSS	Placenta Amnion	Placenta Amnion
14	chr12:122905800-122907600	Active TSS	HSMM	muscle
15	chr12:122905800-122907800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr12:122905800-122907800	Active TSS	Aorta	Aorta
17	chr12:122905800-122907800	Active TSS	Colon Smooth Muscle	Colon
18	chr12:122905800-122907800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr12:122905800-122907800	Active TSS	Psoas Muscle	Psoas
20	chr12:122905800-122908000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:122905800-122908000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:122905800-122908200	Active TSS	NHDF-Ad	bronchial
23	chr12:122905800-122908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr12:122905800-122908600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr12:122906000-122907600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:122906000-122907600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:122906000-122907600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:122906000-122907600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:122906000-122907600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:122906000-122907600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:122906000-122907600	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr12:122906000-122907600	Active TSS	Brain Anterior Caudate	brain
33	chr12:122906000-122907600	Active TSS	Brain Substantia Nigra	brain
34	chr12:122906000-122907600	Active TSS	Fetal Stomach	stomach
35	chr12:122906000-122907600	Active TSS	Rectal Smooth Muscle	rectum
36	chr12:122906000-122907600	Active TSS	Spleen	Spleen
37	chr12:122906000-122907800	Active TSS	Brain Cingulate Gyrus	brain
38	chr12:122906000-122907800	Bivalent/Poised TSS	HepG2	liver
39	chr12:122906000-122908000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:122906000-122908000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:122906000-122908000	Active TSS	Ovary	ovary
42	chr12:122906000-122908000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr12:122906000-122908000	Active TSS	Small Intestine	intestine
44	chr12:122906000-122908000	Active TSS	Hela-S3	cervix
45	chr12:122906000-122908200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:122906000-122908200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:122906000-122908200	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr12:122906000-122908200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:122906000-122908200	Active TSS	Fetal Kidney	kidney
50	chr12:122906000-122908200	Active TSS	A549	lung

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