Variant report

Variant	rs2069450
Chromosome Location	chr7:150753769-150753770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr7:150753754-150754103	K562	blood:	n/a	n/a
2	JUND	chr7:150753297-150754016	K562	blood:	n/a	n/a
3	RAD21	chr7:150753709-150754170	H1-hESC	embryonic stem cell:	n/a	n/a
4	NR2F2	chr7:150753155-150758025	K562	blood:	n/a	n/a
5	MYC	chr7:150753327-150754043	K562	blood:	n/a	n/a
6	ZC3H11A	chr7:150753716-150754004	K562	blood:	n/a	n/a
7	HCFC1	chr7:150753347-150753900	K562	blood:	n/a	n/a
8	CTCF	chr7:150753680-150753830	SAEC	small airway:	n/a	n/a
9	MAX	chr7:150753058-150754393	K562	blood:	n/a	n/a
10	MAZ	chr7:150753366-150754093	K562	blood:	n/a	n/a
11	MYC	chr7:150753306-150754025	K562	blood:	n/a	n/a
12	ZBTB7A	chr7:150753716-150756145	K562	blood:	n/a	n/a
13	CBX3	chr7:150753211-150754138	K562	blood:	n/a	n/a
14	CTCF	chr7:150753700-150753850	HRPEpiC	eye:	n/a	n/a
15	USF1	chr7:150753260-150754098	K562	blood:	n/a	n/a
16	YY1	chr7:150753712-150754105	K562	blood:	n/a	n/a
17	CTCF	chr7:150753350-150754144	K562	blood:	n/a	n/a
18	CTCF	chr7:150753762-150754068	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUN	chr7:150752692-150760841	K562	blood:	n/a	chr7:150756021-150756033 chr7:150757173-150757182
20	CTCF	chr7:150753368-150753782	K562	blood:	n/a	n/a
21	RAD21	chr7:150753738-150754149	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150725565..150726404-chr7:150753483..150754857,4	MCF-7	breast:
2	chr7:150725429..150726261-chr7:150753462..150754180,2	MCF-7	breast:
3	chr7:150725287..150725963-chr7:150753231..150754053,3	K562	blood:
4	chr17:57913545..57916042-chr7:150753031..150754907,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC4A2	TF binding region
CDK5	TF binding region
ENSG00000197150	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11542749	0.94[AMR][1000 genomes]
rs2069454	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229553	0.94[AMR][1000 genomes]
rs34762230	0.94[AMR][1000 genomes]
rs41282736	0.94[AMR][1000 genomes]
rs4148844	0.90[EUR][1000 genomes]
rs4148851	0.90[EUR][1000 genomes]
rs56198402	0.87[EUR][1000 genomes]
rs60368017	0.85[EUR][1000 genomes]
rs61741011	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
10	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
14	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	64 gene(s)	inside rSNPs	diseases
15	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150736800-150753800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:150740200-150753800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:150742600-150754400	Weak transcription	Aorta	Aorta
4	chr7:150743800-150753800	Weak transcription	Liver	Liver
5	chr7:150744400-150754000	Weak transcription	A549	lung
6	chr7:150744800-150754200	Weak transcription	Right Atrium	heart
7	chr7:150745200-150754000	Weak transcription	HSMMtube	muscle
8	chr7:150745200-150754200	Weak transcription	NHDF-Ad	bronchial
9	chr7:150746000-150754000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:150748200-150754000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:150748200-150754000	Weak transcription	Psoas Muscle	Psoas
12	chr7:150748200-150754200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:150748400-150753800	Weak transcription	HMEC	breast
14	chr7:150748400-150754000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:150748400-150754000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:150748400-150754000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:150748400-150754000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:150748400-150754000	Weak transcription	Left Ventricle	heart
19	chr7:150748600-150753800	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:150748600-150753800	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:150748600-150753800	Weak transcription	Lung	lung
22	chr7:150748600-150753800	Weak transcription	NHEK	skin
23	chr7:150748600-150754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:150748600-150754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:150748600-150754000	Weak transcription	NHLF	lung
26	chr7:150748600-150754000	Weak transcription	Osteobl	bone
27	chr7:150748600-150754200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:150748600-150754200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:150749000-150753800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:150749000-150753800	Weak transcription	Pancreas	Pancrea
31	chr7:150749000-150754000	Weak transcription	Adipose Nuclei	Adipose
32	chr7:150749000-150754000	Weak transcription	Ovary	ovary
33	chr7:150749000-150754000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:150749200-150753800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:150749200-150753800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:150749200-150754000	Weak transcription	Right Ventricle	heart
37	chr7:150749200-150754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:150749800-150753800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:150750600-150753800	Weak transcription	Fetal Thymus	thymus
40	chr7:150750600-150754000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:150750800-150753800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:150750800-150753800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:150750800-150753800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:150750800-150753800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:150750800-150754000	Weak transcription	Primary T cells from cord blood	blood
46	chr7:150750800-150754000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:150750800-150754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:150751000-150753800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:150751000-150753800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:150751200-150753800	Weak transcription	Primary monocytes fromperipheralblood	blood

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