Variant report

Variant	rs73726130
Chromosome Location	chr7:150145421-150145422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr7:150145225-150146999	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:150145256-150145554	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:150145204-150149620	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:150145252-150146862	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:150145293-150146917	GM12878	blood:	n/a	n/a
6	RAD21	chr7:150145410-150146431	SK-N-SH	brain:	n/a	chr7:150145951-150145964 chr7:150145948-150145967
7	MAFK	chr7:150145192-150146769	GM12878	blood:	n/a	chr7:150146081-150146092 chr7:150146046-150146061 chr7:150145887-150145896 chr7:150146081-150146092 chr7:150145886-150145900 chr7:150146076-150146091 chr7:150145887-150145897
8	CTCF	chr7:150145245-150146487	SK-N-SH	brain:	n/a	chr7:150145949-150145970 chr7:150145950-150145959 chr7:150145947-150145965 chr7:150145950-150145963 chr7:150145948-150145964 chr7:150145324-150145332
9	CTCF	chr7:150145400-150145550	K562	blood:	n/a	n/a
10	STAT5A	chr7:150145390-150146090	GM12878	blood:	n/a	chr7:150145973-150145981 chr7:150145830-150145838

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150145374-150145424	BE2_C	brain:	n/a
2	chr7:150145374-150145424	NB4	blood:	n/a
3	chr7:150145374-150145424	Caco-2	colon:	n/a
4	chr7:150145374-150145424	H1-hESC	embryonic stem cell:	embryo
5	chr7:150145374-150145424	SK-N-SH_RA	brain:	n/a
6	chr7:150145374-150145424	NH-A	brain:	n/a
7	chr7:150145374-150145424	BJ	skin:	n/a
8	chr7:150145374-150145424	HRCEpiC	kidney:	n/a
9	chr7:150145374-150145424	GM06990	blood:	n/a
10	chr7:150145374-150145424	AG09309	skin:	n/a
11	chr7:150145374-150145424	HEK293	kidney:	embryo
12	chr7:150145374-150145424	IMR90	lung:	fetal
13	chr7:150145374-150145424	AG04450	lung:	fetal
14	chr7:150145374-150145424	ovcar-3	ovarian:	n/a
15	chr7:150145374-150145424	Hela-S3	cervix:	n/a
16	chr7:150145374-150145424	MCF10A-Er-Src	breast:	n/a
17	chr7:150145374-150145424	HEEpiC	esophagus:	n/a
18	chr7:150145374-150145424	SAEC	small airway:	n/a
19	chr7:150145374-150145424	GM12892	blood:	n/a
20	chr7:150145374-150145424	HCPEpiC	choroid plexus:	n/a
21	chr7:150145374-150145424	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:150145374-150145424	HUVEC	blood vessel:	n/a
23	chr7:150145374-150145424	AG09319	gingival:	n/a
24	chr7:150145374-150145424	SK-N-MC	brain:	n/a
25	chr7:150145374-150145424	Hepatocyte	liver:	n/a
26	chr7:150145374-150145424	HepG2	liver:	n/a
27	chr7:150145374-150145424	HNPCEpiC	eye:	n/a
28	chr7:150145374-150145424	NHDF-neo	bronchial:	n/a
29	chr7:150145374-150145424	HL-60	blood:	n/a
30	chr7:150145374-150145424	ProgFib	skin:	n/a
31	chr7:150145374-150145424	PFSK-1	brain:	n/a
32	chr7:150145374-150145424	HCT-116	colon:	n/a
33	chr7:150145374-150145424	RPTEC	kidney:	n/a
34	chr7:150145374-150145424	HRPEpiC	eye:	n/a
35	chr7:150145374-150145424	AoSMC	blood vessel:	n/a
36	chr7:150145374-150145424	A549	lung:	n/a
37	chr7:150145374-150145424	SKMC	muscle:	n/a
38	chr7:150145374-150145424	HRE	kidney:	n/a
39	chr7:150145374-150145424	GM19239	blood:	n/a
40	chr7:150145374-150145424	T-47D	breast:	n/a
41	chr7:150145374-150145424	SK-N-SH	brain:	n/a
42	chr7:150145374-150145424	AG04449	skin:	fetal
43	chr7:150145374-150145424	GM12878	blood:	n/a
44	chr7:150145374-150145424	NHBE	bronchial:	n/a
45	chr7:150145374-150145424	PrEC	prostate:	n/a
46	chr7:150145374-150145424	CMK	blood:	n/a
47	chr7:150145374-150145424	LNCaP	prostate:	n/a
48	chr7:150145374-150145424	ECC-1	luminal epithelium:	n/a
49	chr7:150145374-150145424	MCF-7	breast:	n/a
50	chr7:150145374-150145424	PANC-1	pancreas:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150139670..150141208-chr7:150142903..150145440,2	K562	blood:
2	chr7:150144587..150147528-chr7:150148010..150150013,2	MCF-7	breast:
3	chr7:150068063..150070773-chr7:150144463..150145990,2	K562	blood:

No data

Variant related genes	Relation type
GIMAP8	TF binding region
GIMAP8	CpG island
ENSG00000240449	Chromatin interaction
ENSG00000214022	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10249236	1.00[EUR][1000 genomes]
rs11977022	1.00[EUR][1000 genomes]
rs11977772	1.00[EUR][1000 genomes]
rs55812434	1.00[EUR][1000 genomes]
rs55992343	1.00[EUR][1000 genomes]
rs56305034	1.00[EUR][1000 genomes]
rs57299368	1.00[EUR][1000 genomes]
rs57716148	1.00[EUR][1000 genomes]
rs58255573	1.00[EUR][1000 genomes]
rs58613922	1.00[EUR][1000 genomes]
rs6464065	1.00[EUR][1000 genomes]
rs6946830	1.00[EUR][1000 genomes]
rs73726126	1.00[EUR][1000 genomes]
rs7776587	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150126600-150148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:150131400-150147600	Weak transcription	Colonic Mucosa	Colon
3	chr7:150139400-150146000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:150140600-150147600	Enhancers	Fetal Thymus	thymus
5	chr7:150142000-150145600	Enhancers	Dnd41	blood
6	chr7:150142600-150145600	Weak transcription	Primary B cells from cord blood	blood
7	chr7:150142600-150145600	Weak transcription	Spleen	Spleen
8	chr7:150143000-150145600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr7:150143200-150145600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr7:150143400-150145800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:150143400-150146000	Enhancers	Primary T cells from cord blood	blood
12	chr7:150143800-150147600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:150144000-150145600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:150144000-150145600	Weak transcription	Adipose Nuclei	Adipose
15	chr7:150144000-150147600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:150144200-150145600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:150144200-150145600	Weak transcription	Hela-S3	cervix
18	chr7:150144200-150146000	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:150144200-150147400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:150144400-150145600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:150144400-150145600	Weak transcription	Left Ventricle	heart
22	chr7:150144400-150148000	Weak transcription	Small Intestine	intestine
23	chr7:150145000-150146000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:150145000-150146800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:150145000-150147400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:150145200-150145800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr7:150145200-150146000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:150145200-150146000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr7:150145200-150146800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr7:150145400-150145600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:150145400-150145800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:150145400-150145800	Genic enhancers	GM12878-XiMat	blood
33	chr7:150145400-150145800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr7:150145400-150146000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr7:150145400-150146000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr7:150145400-150146000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:150145400-150146000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:150145400-150146200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr7:150145400-150146400	Weak transcription	Lung	lung
40	chr7:150145400-150146600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:150145400-150146600	Enhancers	Brain Substantia Nigra	brain
42	chr7:150145400-150147000	Bivalent Enhancer	Placenta	Placenta
43	chr7:150145400-150147400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:150145400-150147600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:150145400-150147600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:150145400-150147600	Enhancers	Liver	Liver

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