Variant report

Variant	rs73726116
Chromosome Location	chr7:150130070-150130071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150130024-150133386	GM12878	blood:	n/a	n/a
2	EBF1	chr7:150129957-150130263	GM12878	blood:	n/a	chr7:150130137-150130148
3	MTA3	chr7:150130038-150133414	GM12878	blood:	n/a	n/a
4	TEAD4	chr7:150130016-150130965	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150130069-150130119	GM19239	blood:	n/a
2	chr7:150130069-150130119	HL-60	blood:	n/a
3	chr7:150130069-150130119	MCF-7	breast:	n/a
4	chr7:150130069-150130119	A549	lung:	n/a
5	chr7:150130069-150130119	RPTEC	kidney:	n/a
6	chr7:150130069-150130119	GM12891	blood:	n/a
7	chr7:150130069-150130119	SAEC	small airway:	n/a
8	chr7:150130069-150130119	PFSK-1	brain:	n/a
9	chr7:150130069-150130119	SK-N-SH	brain:	n/a
10	chr7:150130069-150130119	MCF10A-Er-Src	breast:	n/a
11	chr7:150130069-150130119	T-47D	breast:	n/a
12	chr7:150130069-150130119	Caco-2	colon:	n/a
13	chr7:150130069-150130119	NT2-D1	testis:	n/a
14	chr7:150130069-150130119	HPAEpiC	pulmonary alveolar:	n/a
15	chr7:150130069-150130119	HNPCEpiC	eye:	n/a
16	chr7:150130069-150130119	AG10803	skin:	n/a
17	chr7:150130069-150130119	U87	brain:	n/a
18	chr7:150130069-150130119	BE2_C	brain:	n/a
19	chr7:150130069-150130119	HMEC	breast:	n/a
20	chr7:150130069-150130119	K562	blood:	n/a
21	chr7:150130069-150130119	CMK	blood:	n/a
22	chr7:150130069-150130119	Hepatocyte	liver:	n/a
23	chr7:150130069-150130119	GM06990	blood:	n/a
24	chr7:150130069-150130119	GM12878	blood:	n/a
25	chr7:150130069-150130119	HIPEpiC	eye:	n/a
26	chr7:150130069-150130119	NH-A	brain:	n/a
27	chr7:150130069-150130119	Hela-S3	cervix:	n/a
28	chr7:150130069-150130119	AG04449	skin:	fetal
29	chr7:150130069-150130119	PANC-1	pancreas:	n/a
30	chr7:150130069-150130119	HCT-116	colon:	n/a
31	chr7:150130069-150130119	HCM	heart:	n/a
32	chr7:150130069-150130119	ProgFib	skin:	n/a
33	chr7:150130069-150130119	HEK293	kidney:	embryo
34	chr7:150130069-150130119	ECC-1	luminal epithelium:	n/a
35	chr7:150130069-150130119	NHBE	bronchial:	n/a
36	chr7:150130069-150130119	H1-hESC	embryonic stem cell:	embryo
37	chr7:150130069-150130119	HRCEpiC	kidney:	n/a
38	chr7:150130069-150130119	SKMC	muscle:	n/a
39	chr7:150130069-150130119	HUVEC	blood vessel:	n/a
40	chr7:150130069-150130119	HepG2	liver:	n/a
41	chr7:150130069-150130119	AG09319	gingival:	n/a
42	chr7:150130069-150130119	PrEC	prostate:	n/a
43	chr7:150130069-150130119	SK-N-MC	brain:	n/a
44	chr7:150130069-150130119	LNCaP	prostate:	n/a
45	chr7:150130069-150130119	HRE	kidney:	n/a
46	chr7:150130069-150130119	IMR90	lung:	fetal
47	chr7:150130069-150130119	NHDF-neo	bronchial:	n/a
48	chr7:150130069-150130119	Jurkat	blood:	n/a
49	chr7:150130069-150130119	SK-N-SH_RA	brain:	n/a
50	chr7:150130069-150130119	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:150124983..150127260-chr7:150127633..150130251,3	MCF-7	breast:
2	chr7:150099718..150102062-chr7:150129624..150131770,3	K562	blood:
3	chr7:150064404..150066708-chr7:150128401..150130893,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00996	TF binding region
LINC00996	CpG island
ENSG00000196456	Chromatin interaction
ENSG00000214022	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55775481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60499586	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61676552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6953608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6970763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6970874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971065	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971976	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726118	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726119	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726123	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726124	0.96[AFR][1000 genomes];1.00[AMR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150104400-150131600	Weak transcription	Right Atrium	heart
2	chr7:150110200-150142200	Weak transcription	Gastric	stomach
3	chr7:150126000-150130200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:150126400-150130200	Weak transcription	Pancreas	Pancrea
5	chr7:150126400-150130800	Weak transcription	Esophagus	oesophagus
6	chr7:150126600-150130200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:150126600-150132600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:150126600-150148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:150126800-150130200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:150127000-150130800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:150127800-150131000	Weak transcription	Colonic Mucosa	Colon
12	chr7:150127800-150138800	Weak transcription	Spleen	Spleen
13	chr7:150128600-150130400	Enhancers	K562	blood
14	chr7:150129000-150130600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:150129200-150132600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:150129400-150130400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:150129800-150130800	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:150129800-150131000	Enhancers	Fetal Thymus	thymus
19	chr7:150129800-150134200	Enhancers	Primary B cells from cord blood	blood
20	chr7:150130000-150130200	Enhancers	Placenta	Placenta
21	chr7:150130000-150130200	Enhancers	Thymus	Thymus
22	chr7:150130000-150130400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr7:150130000-150130400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:150130000-150130400	Enhancers	Fetal Muscle Trunk	muscle
25	chr7:150130000-150130400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr7:150130000-150130400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr7:150130000-150130600	Enhancers	Duodenum Mucosa	Duodenum
28	chr7:150130000-150130600	Flanking Active TSS	GM12878-XiMat	blood
29	chr7:150130000-150131000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:150130000-150131200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:150130000-150131400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr7:150130000-150131400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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