Variant report

Variant	rs61954448
Chromosome Location	chr12:122907794-122907795
allele	A/C
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	STAT3	chr12:122907469-122908186	MCF10A-Er-Src	breast:	n/a	chr12:122907502-122907516 chr12:122908071-122908079 chr12:122908068-122908076 chr12:122907587-122907599 chr12:122907505-122907513 chr12:122907503-122907514
2	NR2F2	chr12:122907414-122908850	K562	blood:	n/a	n/a
3	MTA3	chr12:122907377-122907840	GM12878	blood:	n/a	n/a
4	RCOR1	chr12:122907437-122908370	Hela-S3	cervix:	n/a	n/a
5	STAT3	chr12:122907317-122907858	MCF10A-Er-Src	breast:	n/a	chr12:122907502-122907516 chr12:122907587-122907599 chr12:122907505-122907513 chr12:122907503-122907514
6	POLR2A	chr12:122906518-122908426	H1-neurons	neurons:	n/a	n/a
7	TAF1	chr12:122907313-122908308	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr12:122907382-122908457	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr12:122907242-122907849	ECC-1	luminal epithelium:	n/a	n/a
10	E2F6	chr12:122907321-122908284	H1-hESC	embryonic stem cell:	n/a	chr12:122907592-122907603
11	POLR2A	chr12:122906083-122907882	K562	blood:	n/a	n/a
12	TAF1	chr12:122907339-122908399	A549	lung:	n/a	n/a
13	TCF12	chr12:122907290-122908706	A549	lung:	n/a	chr12:122908210-122908220
14	NFIC	chr12:122907620-122908231	GM12878	blood:	n/a	n/a
15	BCL3	chr12:122907376-122908477	A549	lung:	n/a	chr12:122907453-122907462 chr12:122908089-122908098
16	GABPA	chr12:122907712-122908142	A549	lung:	n/a	n/a
17	POLR2A	chr12:122907317-122907901	HUVEC	blood vessel:	n/a	n/a
18	CEBPB	chr12:122907434-122907830	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr12:122906917-122907818	U87	brain:	n/a	n/a
20	TBP	chr12:122907423-122908446	Hela-S3	cervix:	n/a	n/a
21	TCF7L2	chr12:122907481-122908325	Hela-S3	cervix:	n/a	chr12:122907620-122907627 chr12:122907826-122907833
22	REST	chr12:122907531-122907855	H1-neurons	neurons:	n/a	n/a
23	EBF1	chr12:122907718-122908117	GM12878	blood:	n/a	chr12:122907725-122907734 chr12:122908063-122908072
24	USF2	chr12:122907745-122907838	K562	blood:	n/a	n/a
25	POLR2A	chr12:122905815-122908385	Hela-S3	cervix:	n/a	n/a
26	JUND	chr12:122906051-122907868	A549	lung:	n/a	n/a
27	MYC	chr12:122907658-122908133	H1-hESC	embryonic stem cell:	n/a	chr12:122908038-122908047
28	POLR2A	chr12:122905478-122908917	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr12:122905382-122908556	SK-N-SH	brain:	n/a	chr12:122908358-122908367
30	MAX	chr12:122907243-122908441	A549	lung:	n/a	chr12:122908038-122908047
31	STAT3	chr12:122907442-122907819	Hela-S3	cervix:	n/a	chr12:122907502-122907516 chr12:122907587-122907599 chr12:122907505-122907513 chr12:122907503-122907514
32	GTF2F1	chr12:122907535-122908524	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:122905364-122908744	MCF10A-Er-Src	breast:	n/a	n/a
34	CTCF	chr12:122905757-122907824	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr12:122905881-122908872	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr12:122905741-122908876	Hela-S3	cervix:	n/a	n/a
37	NFYA	chr12:122907705-122908400	Hela-S3	cervix:	n/a	n/a
38	BACH1	chr12:122907541-122907821	K562	blood:	n/a	n/a
39	REST	chr12:122907379-122908348	A549	lung:	n/a	n/a
40	POLR2A	chr12:122907303-122908287	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr12:122906352-122908227	H1-hESC	embryonic stem cell:	n/a	n/a
42	CBX3	chr12:122907336-122907825	K562	blood:	n/a	n/a
43	POLR2A	chr12:122905828-122908836	HepG2	liver:	n/a	n/a
44	FOS	chr12:122907407-122907827	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:122906123-122908761	H1-hESC	embryonic stem cell:	n/a	n/a
46	STAT3	chr12:122907312-122907875	MCF10A-Er-Src	breast:	n/a	chr12:122907502-122907516 chr12:122907587-122907599 chr12:122907505-122907513 chr12:122907503-122907514
47	REST	chr12:122907526-122907866	K562	blood:	n/a	n/a
48	POLR2A	chr12:122905998-122908890	K562	blood:	n/a	n/a
49	SIX5	chr12:122907374-122908599	A549	lung:	n/a	n/a
50	CTCF	chr12:122907780-122907930	BJ	skin:	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	chr1:159894566..159895411-chr12:122907645..122908495,2	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	chr12:122902575..122904900-chr12:122907634..122909136,2	MCF-7	breast:
13	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:
14	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
15	chr10:32344743..32345244-chr12:122907567..122908541,2	Hela-S3	cervix:

Variant related genes	Relation type
CLIP1	TF binding region
ENSG00000033030	Chromatin interaction
ENSG00000267598	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000158710	Chromatin interaction
ENSG00000257097	Chromatin interaction
ENSG00000130779	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	chr12:122905000-122907800	Active TSS	Esophagus	oesophagus
2	chr12:122905400-122908200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:122905600-122908200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:122905600-122908200	Active TSS	Right Ventricle	heart
5	chr12:122905600-122908400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:122905600-122908400	Active TSS	Left Ventricle	heart
7	chr12:122905800-122907800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr12:122905800-122907800	Active TSS	Aorta	Aorta
9	chr12:122905800-122907800	Active TSS	Colon Smooth Muscle	Colon
10	chr12:122905800-122907800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr12:122905800-122907800	Active TSS	Psoas Muscle	Psoas
12	chr12:122905800-122908000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr12:122905800-122908000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:122905800-122908200	Active TSS	NHDF-Ad	bronchial
15	chr12:122905800-122908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:122905800-122908600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:122906000-122907800	Active TSS	Brain Cingulate Gyrus	brain
18	chr12:122906000-122907800	Bivalent/Poised TSS	HepG2	liver
19	chr12:122906000-122908000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:122906000-122908000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:122906000-122908000	Active TSS	Ovary	ovary
22	chr12:122906000-122908000	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr12:122906000-122908000	Active TSS	Small Intestine	intestine
24	chr12:122906000-122908000	Active TSS	Hela-S3	cervix
25	chr12:122906000-122908200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:122906000-122908200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:122906000-122908200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr12:122906000-122908200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:122906000-122908200	Active TSS	Fetal Kidney	kidney
30	chr12:122906000-122908200	Active TSS	A549	lung
31	chr12:122906000-122908400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:122906200-122907800	Active TSS	Fetal Brain Female	brain
33	chr12:122906200-122908000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:122906200-122908200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr12:122906200-122908200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr12:122906200-122908200	Active TSS	Gastric	stomach
37	chr12:122906200-122908400	Active TSS	Lung	lung
38	chr12:122906400-122907800	Active TSS	Brain Angular Gyrus	brain
39	chr12:122907000-122907800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:122907000-122907800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:122907000-122908000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:122907400-122907800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:122907400-122908000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:122907400-122908000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
45	chr12:122907400-122908000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr12:122907400-122908000	Flanking Active TSS	Stomach Mucosa	stomach
47	chr12:122907400-122908200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:122907400-122908200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr12:122907400-122908200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:122907400-122908200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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