Variant report

Variant	rs62470955
Chromosome Location	chr7:120689531-120689532
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	CHD2	chr7:120689324-120689769	K562	blood:	n/a	n/a
2	CEBPD	chr7:120689110-120689893	K562	blood:	n/a	n/a
3	NFYB	chr7:120689331-120689717	K562	blood:	n/a	n/a
4	HDAC2	chr7:120689446-120689748	H1-hESC	embryonic stem cell:	n/a	chr7:120689702-120689711
5	ATF1	chr7:120689365-120689889	K562	blood:	n/a	n/a
6	PML	chr7:120689191-120690249	K562	blood:	n/a	n/a
7	GATA1	chr7:120688775-120690572	K562	blood:	n/a	chr7:120689696-120689717 chr7:120689703-120689710 chr7:120689699-120689715 chr7:120689704-120689721 chr7:120689703-120689712 chr7:120689703-120689710 chr7:120689699-120689715 chr7:120689702-120689712 chr7:120689703-120689710 chr7:120690269-120690290
8	GATA2	chr7:120689331-120689917	K562	blood:	n/a	chr7:120689696-120689717 chr7:120689703-120689710 chr7:120689699-120689715 chr7:120689704-120689721 chr7:120689703-120689712 chr7:120689703-120689710 chr7:120689699-120689715 chr7:120689702-120689712 chr7:120689703-120689710
9	TBL1XR1	chr7:120689264-120690266	K562	blood:	n/a	n/a
10	TBL1XR1	chr7:120689326-120690119	K562	blood:	n/a	n/a
11	TEAD4	chr7:120689174-120690120	K562	blood:	n/a	n/a
12	POLR2A	chr7:120689252-120689961	K562	blood:	n/a	n/a
13	MAFK	chr7:120689476-120690189	K562	blood:	n/a	n/a
14	RCOR1	chr7:120689259-120690175	K562	blood:	n/a	n/a
15	MYC	chr7:120689231-120689978	K562	blood:	n/a	n/a
16	CCNT2	chr7:120689334-120690014	K562	blood:	n/a	chr7:120689701-120689721
17	HCFC1	chr7:120689354-120689806	K562	blood:	n/a	n/a
18	POLR2A	chr7:120689230-120689935	K562	blood:	n/a	n/a
19	PML	chr7:120689205-120689997	K562	blood:	n/a	n/a
20	USF2	chr7:120689236-120689735	K562	blood:	n/a	n/a
21	TRIM28	chr7:120689266-120690023	K562	blood:	n/a	n/a
22	EBF1	chr7:120689525-120689616	GM12878	blood:	n/a	chr7:120689588-120689599
23	CEBPD	chr7:120689180-120690056	K562	blood:	n/a	n/a
24	ZNF274	chr7:120689404-120690180	K562	blood:	n/a	n/a
25	CEBPB	chr7:120688916-120689919	K562	blood:	n/a	n/a
26	STAT5A	chr7:120689268-120689843	K562	blood:	n/a	n/a
27	MAZ	chr7:120689241-120689944	K562	blood:	n/a	n/a
28	BACH1	chr7:120689433-120689761	K562	blood:	n/a	n/a
29	HMGN3	chr7:120689286-120689829	K562	blood:	n/a	chr7:120689704-120689711
30	TEAD4	chr7:120689479-120690008	H1-hESC	embryonic stem cell:	n/a	n/a
31	EP300	chr7:120689233-120689957	K562	blood:	n/a	n/a
32	NR2F2	chr7:120689159-120689908	K562	blood:	n/a	n/a
33	BHLHE40	chr7:120689353-120689992	K562	blood:	n/a	n/a
34	TAL1	chr7:120689227-120690090	K562	blood:	n/a	chr7:120689703-120689721
35	POLR2A	chr7:120689306-120689860	K562	blood:	n/a	n/a
36	MYC	chr7:120689289-120690115	K562	blood:	n/a	n/a
37	JUND	chr7:120689337-120689967	K562	blood:	n/a	n/a
38	HDAC2	chr7:120689288-120689673	K562	blood:	n/a	n/a
39	POLR2A	chr7:120689319-120689843	K562	blood:	n/a	n/a
40	CTCF	chr7:120689480-120689630	K562	blood:	n/a	n/a
41	MAFF	chr7:120689264-120689914	K562	blood:	n/a	n/a
42	IRF1	chr7:120689072-120690222	K562	blood:	n/a	n/a
43	GATA2	chr7:120689267-120689972	K562	blood:	n/a	chr7:120689696-120689717 chr7:120689703-120689710 chr7:120689699-120689715 chr7:120689704-120689721 chr7:120689703-120689712 chr7:120689703-120689710 chr7:120689699-120689715 chr7:120689702-120689712 chr7:120689703-120689710
44	TBP	chr7:120689249-120690171	K562	blood:	n/a	n/a
45	POLR2A	chr7:120689227-120690064	K562	blood:	n/a	n/a
46	RCOR1	chr7:120689192-120690234	K562	blood:	n/a	n/a
47	GATA2	chr7:120689324-120689945	K562	blood:	n/a	chr7:120689696-120689717 chr7:120689703-120689710 chr7:120689699-120689715 chr7:120689704-120689721 chr7:120689703-120689712 chr7:120689703-120689710 chr7:120689699-120689715 chr7:120689702-120689712 chr7:120689703-120689710
48	ARID3A	chr7:120689326-120689898	K562	blood:	n/a	n/a
49	CEBPB	chr7:120689140-120690040	K562	blood:	n/a	n/a
50	UBTF	chr7:120689288-120689893	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:120684359..120686005-chr7:120688473..120690743,2	MCF-7	breast:
2	chr7:120659278..120662150-chr7:120687240..120689583,2	K562	blood:
3	chr7:120688120..120689909-chr7:120713674..120716576,3	K562	blood:
4	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:
5	chr7:120688105..120689645-chr7:120709795..120712085,2	K562	blood:

Variant related genes	Relation type
HMGN1P18	TF binding region
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs62469958	0.89[EUR][1000 genomes]
rs62470920	0.93[EUR][1000 genomes]
rs62470954	0.93[EUR][1000 genomes]
rs62470956	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62470957	0.93[EUR][1000 genomes]
rs62470958	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120673800-120694200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:120682200-120695800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
4	chr7:120682600-120692000	Weak transcription	Fetal Stomach	stomach
5	chr7:120682800-120700800	Weak transcription	Fetal Kidney	kidney
6	chr7:120683800-120690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:120684000-120694000	Weak transcription	Small Intestine	intestine
8	chr7:120684400-120689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:120685000-120689600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:120685600-120690000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:120686800-120690000	Weak transcription	Placenta	Placenta
12	chr7:120687000-120689600	Strong transcription	Adipose Nuclei	Adipose
13	chr7:120687000-120689800	Strong transcription	HSMM	muscle
14	chr7:120687800-120689800	Strong transcription	NHLF	lung
15	chr7:120687800-120706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:120688000-120690200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr7:120688400-120690000	Weak transcription	NHDF-Ad	bronchial
18	chr7:120688400-120690800	Weak transcription	Aorta	Aorta
19	chr7:120688600-120689800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:120689000-120690200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr7:120689000-120690400	Enhancers	Colon Smooth Muscle	Colon
22	chr7:120689000-120690400	Transcr. at gene 5' and 3'	K562	blood
23	chr7:120689000-120691200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:120689200-120689600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:120689200-120689600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:120689200-120689600	ZNF genes & repeats	HSMMtube	muscle
27	chr7:120689200-120689800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:120689200-120690200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:120689200-120690200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:120689200-120690200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:120689200-120690400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:120689200-120690400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:120689200-120691200	Enhancers	Liver	Liver
34	chr7:120689200-120691200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr7:120689400-120689600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:120689400-120689600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:120689400-120689600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:120689400-120689600	Genic enhancers	Ovary	ovary
39	chr7:120689400-120689800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:120689400-120689800	Enhancers	Brain Hippocampus Middle	brain
41	chr7:120689400-120689800	Enhancers	Spleen	Spleen
42	chr7:120689400-120690000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr7:120689400-120690000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:120689400-120690000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:120689400-120690000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:120689400-120690200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:120689400-120690200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:120689400-120690200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:120689400-120690200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:120689400-120690200	Genic enhancers	Left Ventricle	heart

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