Variant report

Variant	rs73295504
Chromosome Location	chr7:27784323-27784324
allele	A/G
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	FOXA2	chr7:27784278-27784476	HepG2	liver:	n/a	chr7:27784444-27784456
2	MXI1	chr7:27784054-27785269	SK-N-SH	brain:	n/a	n/a
3	SMC3	chr7:27784160-27785214	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr7:27784289-27784373	SH-SY5Y	brain:	n/a	n/a
5	CTCF	chr7:27784085-27785285	A549	lung:	n/a	chr7:27784884-27784905
6	FOXA1	chr7:27784260-27784507	HepG2	liver:	n/a	chr7:27784444-27784456
7	POLR2A	chr7:27784259-27785075	K562	blood:	n/a	n/a
8	EP300	chr7:27784316-27785045	K562	blood:	n/a	n/a
9	FOXA2	chr7:27784166-27784703	A549	lung:	n/a	chr7:27784444-27784456
10	ARID3A	chr7:27784310-27784503	K562	blood:	n/a	n/a
11	RAD21	chr7:27784300-27785292	SK-N-SH	brain:	n/a	chr7:27784596-27784608
12	FOXA1	chr7:27784162-27785102	HepG2	liver:	n/a	chr7:27784444-27784456
13	FOXA2	chr7:27784121-27784622	HepG2	liver:	n/a	chr7:27784444-27784456

No.	Distal block	Cell Line	Cell type
1	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
2	chr7:27702844..27705316-chr7:27782990..27784557,2	K562	blood:
3	chr7:27777088..27781357-chr7:27783261..27787943,9	MCF-7	breast:
4	chr7:27783237..27786573-chr7:27802443..27806955,4	K562	blood:
5	chr7:27777249..27781364-chr7:27781538..27788730,11	MCF-7	breast:
6	chr7:27783427..27786063-chr7:27789814..27792025,2	MCF-7	breast:
7	chr7:27782398..27784453-chr7:27793755..27796214,2	K562	blood:
8	chr7:27784235..27786861-chr7:27801505..27804201,3	K562	blood:

Variant related genes	Relation type
ENSG00000229893	TF binding region
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10486560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11981473	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11981639	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11982051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155661	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155671	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155813	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17155815	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17155818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4299908	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57293935	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57355732	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59134341	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60524058	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60811898	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61226834	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6462046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6942560	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6952476	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958438	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958646	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6963125	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6969000	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73293835	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293838	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293842	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293856	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293862	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293868	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293882	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293888	0.87[AFR][1000 genomes]
rs73293893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295519	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73295543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295567	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297523	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297535	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7783141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7783426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7803672	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3504587	chr7:27782321-27784475	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2603706	chr7:27783015-27784618	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780600-27784600	Weak transcription	Spleen	Spleen
2	chr7:27780800-27784600	Weak transcription	Left Ventricle	heart
3	chr7:27780800-27788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:27780800-27789400	Weak transcription	Lung	lung
5	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:27780800-27815200	Weak transcription	Gastric	stomach
9	chr7:27781000-27784400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:27781000-27784600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:27781000-27784600	Weak transcription	Brain Substantia Nigra	brain
12	chr7:27781000-27784600	Weak transcription	Colonic Mucosa	Colon
13	chr7:27781000-27784600	Weak transcription	Ovary	ovary
14	chr7:27781000-27789000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
17	chr7:27781200-27784400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:27781200-27784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:27781200-27784400	Weak transcription	Primary T cells from cord blood	blood
20	chr7:27781200-27784400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:27781200-27784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:27781200-27784400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:27781200-27784400	Weak transcription	HSMMtube	muscle
24	chr7:27781200-27784400	Weak transcription	NHLF	lung
25	chr7:27781200-27784600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:27781200-27784600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:27781200-27784600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:27781200-27784600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:27781200-27784600	Weak transcription	Brain Anterior Caudate	brain
30	chr7:27781200-27784600	Weak transcription	Fetal Heart	heart
31	chr7:27781200-27784600	Weak transcription	Fetal Kidney	kidney
32	chr7:27781200-27784600	Weak transcription	Fetal Lung	lung
33	chr7:27781200-27784600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:27781200-27784600	Weak transcription	HMEC	breast
35	chr7:27781200-27784600	Weak transcription	HSMM	muscle
36	chr7:27781200-27784600	Weak transcription	NHEK	skin
37	chr7:27781200-27788000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:27781200-27788000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:27781200-27788400	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:27781200-27788800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:27781200-27789000	Weak transcription	Fetal Thymus	thymus
42	chr7:27781200-27789400	Weak transcription	Thymus	Thymus
43	chr7:27781200-27789600	Weak transcription	Fetal Brain Female	brain
44	chr7:27781200-27790200	Weak transcription	Fetal Brain Male	brain
45	chr7:27781200-27791800	Weak transcription	Right Ventricle	heart
46	chr7:27781200-27792000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:27781400-27784400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:27781400-27784400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:27781400-27784400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:27781400-27784400	Weak transcription	Rectal Mucosa Donor 29	rectum

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