Variant report

Variant	rs2069452
Chromosome Location	chr7:150753427-150753428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:150753315-150753598	K562	blood:	n/a	n/a
2	RAD21	chr7:150753414-150753619	K562	blood:	n/a	n/a
3	CTCF	chr7:150753404-150753597	HepG2	liver:	n/a	n/a
4	JUND	chr7:150753297-150754016	K562	blood:	n/a	n/a
5	ZNF143	chr7:150753381-150753640	K562	blood:	n/a	n/a
6	CTCFL	chr7:150753369-150753697	K562	blood:	n/a	n/a
7	CTCF	chr7:150753420-150753570	Caco-2	colon:	n/a	n/a
8	NR2F2	chr7:150753155-150758025	K562	blood:	n/a	n/a
9	POLR2A	chr7:150753371-150753567	HepG2	liver:	n/a	n/a
10	MYC	chr7:150753327-150754043	K562	blood:	n/a	n/a
11	MAX	chr7:150753304-150753684	K562	blood:	n/a	n/a
12	YY1	chr7:150753417-150753595	K562	blood:	n/a	n/a
13	MYC	chr7:150753333-150753666	K562	blood:	n/a	n/a
14	SMC3	chr7:150753346-150753647	HepG2	liver:	n/a	n/a
15	HCFC1	chr7:150753347-150753900	K562	blood:	n/a	n/a
16	ZMIZ1	chr7:150753328-150753766	K562	blood:	n/a	n/a
17	MAFF	chr7:150753327-150753767	K562	blood:	n/a	n/a
18	E2F6	chr7:150753326-150753667	K562	blood:	n/a	n/a
19	CTCF	chr7:150753420-150753570	HAc	cerebellar:	n/a	n/a
20	MXI1	chr7:150753366-150753633	K562	blood:	n/a	n/a
21	CTCF	chr7:150753380-150753530	BE2_C	brain:	n/a	n/a
22	ZNF384	chr7:150753419-150753617	K562	blood:	n/a	n/a
23	CTCF	chr7:150753357-150753667	K562	blood:	n/a	n/a
24	EP300	chr7:150753347-150753619	K562	blood:	n/a	n/a
25	MAX	chr7:150753058-150754393	K562	blood:	n/a	n/a
26	USF1	chr7:150753213-150753705	K562	blood:	n/a	n/a
27	CTCF	chr7:150753420-150753570	HEK293	kidney:	n/a	n/a
28	CTCFL	chr7:150753394-150753667	K562	blood:	n/a	n/a
29	CTCF	chr7:150753369-150753659	K562	blood:	n/a	n/a
30	RCOR1	chr7:150753258-150753689	K562	blood:	n/a	n/a
31	CTCF	chr7:150753400-150753550	HL-60	blood:	n/a	n/a
32	MAZ	chr7:150753366-150754093	K562	blood:	n/a	n/a
33	MYC	chr7:150753306-150754025	K562	blood:	n/a	n/a
34	E2F6	chr7:150753395-150753620	K562	blood:	n/a	n/a
35	CTCF	chr7:150753420-150753570	HA-sp	spinal cord:	n/a	n/a
36	RCOR1	chr7:150753312-150753569	K562	blood:	n/a	n/a
37	TBL1XR1	chr7:150753341-150753678	K562	blood:	n/a	n/a
38	NR2F2	chr7:150753189-150753696	K562	blood:	n/a	n/a
39	BHLHE40	chr7:150753408-150753666	K562	blood:	n/a	n/a
40	CBX3	chr7:150753211-150754138	K562	blood:	n/a	n/a
41	CTCF	chr7:150753320-150753590	A549	lung:	n/a	n/a
42	USF1	chr7:150753260-150754098	K562	blood:	n/a	n/a
43	RAD21	chr7:150753395-150753497	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr7:150753350-150754144	K562	blood:	n/a	n/a
45	MYC	chr7:150753307-150753697	K562	blood:	n/a	n/a
46	JUN	chr7:150752692-150760841	K562	blood:	n/a	chr7:150756021-150756033 chr7:150757173-150757182
47	CTCF	chr7:150753368-150753782	K562	blood:	n/a	n/a
48	MAX	chr7:150753312-150753695	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150725287..150725963-chr7:150753231..150754053,3	K562	blood:
2	chr17:57913545..57916042-chr7:150753031..150754907,2	MCF-7	breast:

No data

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2069459	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2303930	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58134191	0.90[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:99 , 50 per page) page: 1 2

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	chr7:150748600-150753600	Weak transcription	Fetal Heart	heart
20	chr7:150748600-150753800	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:150748600-150753800	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:150748600-150753800	Weak transcription	Lung	lung
23	chr7:150748600-150753800	Weak transcription	NHEK	skin
24	chr7:150748600-150754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:150748600-150754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:150748600-150754000	Weak transcription	NHLF	lung
27	chr7:150748600-150754000	Weak transcription	Osteobl	bone
28	chr7:150748600-150754200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:150748600-150754200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:150749000-150753600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:150749000-150753600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:150749000-150753800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:150749000-150753800	Weak transcription	Pancreas	Pancrea
34	chr7:150749000-150754000	Weak transcription	Adipose Nuclei	Adipose
35	chr7:150749000-150754000	Weak transcription	Ovary	ovary
36	chr7:150749000-150754000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:150749200-150753800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:150749200-150753800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:150749200-150754000	Weak transcription	Right Ventricle	heart
40	chr7:150749200-150754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:150749600-150753600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:150749800-150753800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:150750600-150753600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:150750600-150753800	Weak transcription	Fetal Thymus	thymus
45	chr7:150750600-150754000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:150750800-150753600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:150750800-150753800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:150750800-150753800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:150750800-150753800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:150750800-150753800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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