Variant report

Variant	rs28651123
Chromosome Location	chr7:150436142-150436143
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	chr7:150435753-150436482	MCF10A-Er-Src	breast:	n/a	n/a
2	RAD21	chr7:150436133-150436438	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr7:150436126-150436456	K562	blood:	n/a	n/a
4	RAD21	chr7:150436016-150436522	HCT-116	colon:	n/a	n/a
5	POLR2A	chr7:150434287-150436204	GM12891	blood:	n/a	n/a
6	CTCF	chr7:150436120-150436390	NB4	blood:	n/a	n/a
7	SMC3	chr7:150436078-150436422	GM12878	blood:	n/a	n/a
8	RAD21	chr7:150436106-150436522	HCT-116	colon:	n/a	n/a
9	POLR2A	chr7:150434050-150436345	GM12892	blood:	n/a	n/a
10	FOXA1	chr7:150436060-150436455	HepG2	liver:	n/a	chr7:150436318-150436333
11	CTCF	chr7:150436129-150436402	HepG2	liver:	n/a	n/a
12	FOXA1	chr7:150436116-150436471	HepG2	liver:	n/a	chr7:150436318-150436333
13	RAD21	chr7:150436078-150436465	HepG2	liver:	n/a	n/a
14	FOSL1	chr7:150435662-150436218	HCT-116	colon:	n/a	n/a
15	FOS	chr7:150435704-150436403	MCF10A-Er-Src	breast:	n/a	chr7:150435927-150435938 chr7:150435961-150435972
16	CTCF	chr7:150436120-150436270	GM12865	blood:	n/a	n/a
17	POLR2A	chr7:150435891-150436171	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr7:150436096-150436464	HepG2	liver:	n/a	n/a
19	CTCF	chr7:150436119-150436455	GM12878	blood:	n/a	n/a
20	FOSL1	chr7:150435674-150436171	HCT-116	colon:	n/a	n/a
21	CTCF	chr7:150436120-150436270	HCT-116	colon:	n/a	n/a
22	POLR2A	chr7:150434081-150436563	GM12892	blood:	n/a	n/a
23	E2F4	chr7:150435591-150436300	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr7:150435701-150436356	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr7:150435746-150436340	HUVEC	blood vessel:	n/a	n/a
26	MYC	chr7:150435750-150436368	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr7:150435703-150436336	MCF10A-Er-Src	breast:	n/a	chr7:150435927-150435938 chr7:150435961-150435972
28	FOS	chr7:150435715-150436197	MCF10A-Er-Src	breast:	n/a	chr7:150435927-150435938 chr7:150435961-150435972
29	POLR2A	chr7:150434201-150436185	GM12892	blood:	n/a	n/a
30	SMC3	chr7:150436119-150436430	HepG2	liver:	n/a	n/a
31	FOXA1	chr7:150436045-150436476	HepG2	liver:	n/a	chr7:150436318-150436333
32	POLR2A	chr7:150436065-150436265	K562	blood:	n/a	n/a
33	POLR2A	chr7:150433977-150436489	GM12892	blood:	n/a	n/a
34	JUND	chr7:150435638-150436199	HCT-116	colon:	n/a	chr7:150435927-150435938 chr7:150435961-150435972
35	CTCF	chr7:150436103-150436439	MCF-7	breast:	n/a	n/a
36	RAD21	chr7:150436019-150436434	HepG2	liver:	n/a	n/a
37	STAT3	chr7:150435753-150436337	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr7:150435594-150436243	MCF10A-Er-Src	breast:	n/a	chr7:150435927-150435938 chr7:150435961-150435972
39	MTA3	chr7:150433963-150436163	GM12878	blood:	n/a	n/a
40	MYC	chr7:150435703-150436370	MCF10A-Er-Src	breast:	n/a	n/a
41	RAD21	chr7:150436086-150436514	MCF-7	breast:	n/a	n/a
42	STAT3	chr7:150435851-150436277	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150435867..150436547-chr7:150454024..150454528,2	MCF-7	breast:

Variant related genes	Relation type
GIMAP5	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11972223	1.00[EUR][1000 genomes]
rs11973850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977022	1.00[EUR][1000 genomes]
rs11977474	1.00[EUR][1000 genomes]
rs11977772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11981041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983983	1.00[EUR][1000 genomes]
rs28375807	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28690331	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58281055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59056007	1.00[EUR][1000 genomes]
rs59483069	1.00[EUR][1000 genomes]
rs59997037	1.00[EUR][1000 genomes]
rs73478442	1.00[EUR][1000 genomes]
rs7788154	1.00[EUR][1000 genomes]
rs7788229	1.00[EUR][1000 genomes]
rs7807202	1.00[EUR][1000 genomes]
rs7808266	1.00[EUR][1000 genomes]
rs9969122	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150433800-150436800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:150433800-150439200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:150434000-150436200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:150434000-150436800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:150434000-150436800	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr7:150434000-150437000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:150434000-150437200	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr7:150434000-150437400	Active TSS	Brain Anterior Caudate	brain
9	chr7:150434000-150437400	Active TSS	Colonic Mucosa	Colon
10	chr7:150434000-150437600	Active TSS	Lung	lung
11	chr7:150434000-150437600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr7:150434000-150437600	Active TSS	Right Ventricle	heart
13	chr7:150434000-150437800	Active TSS	Rectal Smooth Muscle	rectum
14	chr7:150434000-150438000	Active TSS	Right Atrium	heart
15	chr7:150434200-150436200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr7:150434200-150437000	Active TSS	Primary T cells from cord blood	blood
17	chr7:150434200-150437200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:150434200-150437200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr7:150434200-150437400	Active TSS	Primary T cells fromperipheralblood	blood
20	chr7:150434200-150437600	Active TSS	Brain Hippocampus Middle	brain
21	chr7:150434200-150437600	Active TSS	Left Ventricle	heart
22	chr7:150434200-150437600	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr7:150434200-150437800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:150434200-150437800	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr7:150434200-150438000	Active TSS	Duodenum Mucosa	Duodenum
26	chr7:150434200-150438000	Active TSS	Psoas Muscle	Psoas
27	chr7:150434400-150436200	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr7:150434400-150436400	Flanking Active TSS	HUVEC	blood vessel
29	chr7:150434400-150436600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:150434400-150436800	Active TSS	Brain Substantia Nigra	brain
31	chr7:150434400-150437200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:150434400-150437200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:150434400-150437400	Active TSS	Brain Angular Gyrus	brain
34	chr7:150434400-150437400	Active TSS	Thymus	Thymus
35	chr7:150434400-150437800	Active TSS	Adipose Nuclei	Adipose
36	chr7:150434600-150440600	Transcr. at gene 5' and 3'	Dnd41	blood
37	chr7:150434800-150436400	Active TSS	Fetal Stomach	stomach
38	chr7:150434800-150437400	Active TSS	Primary B cells from cord blood	blood
39	chr7:150434800-150437400	Enhancers	HMEC	breast
40	chr7:150435000-150436400	Active TSS	Fetal Muscle Trunk	muscle
41	chr7:150435000-150437800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr7:150435200-150436400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:150435200-150437600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr7:150435200-150437600	Active TSS	Stomach Smooth Muscle	stomach
45	chr7:150435400-150436200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:150435400-150436400	Enhancers	NHEK	skin
47	chr7:150435400-150437400	Flanking Active TSS	Liver	Liver
48	chr7:150435400-150437600	Active TSS	Fetal Muscle Leg	muscle
49	chr7:150435400-150439000	Active TSS	GM12878-XiMat	blood
50	chr7:150435400-150442800	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood

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