Variant report

Variant	rs56066714
Chromosome Location	chr1:170503928-170503929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
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	POLR2A	chr1:170499492-170504188	GM12878	blood:	n/a	n/a
2	FOXA1	chr1:170503687-170504127	HepG2	liver:	n/a	n/a
3	MYC	chr1:170503547-170503991	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr1:170503751-170504108	HepG2	liver:	n/a	n/a
5	STAT3	chr1:170503865-170503985	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr1:170503849-170503986	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:170503785-170503985	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA2	chr1:170503711-170504073	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:170500588-170509342	K562	blood:	n/a	n/a
10	POLR2A	chr1:170503772-170504285	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:170501854..170504832-chr1:170526241..170528551,2	MCF-7	breast:
2	chr1:169862596..169865250-chr1:170499667..170504019,5	K562	blood:
3	chr1:170499494..170504219-chr1:170507198..170509728,4	K562	blood:
4	chr1:170499494..170507345-chr1:170507805..170517333,18	K562	blood:
5	chr1:170499484..170505100-chr1:170505427..170511134,13	MCF-7	breast:
6	chr1:170496299..170499124-chr1:170502580..170504696,2	K562	blood:
7	chr1:170499846..170504184-chr1:170513564..170517681,4	K562	blood:

No data

Variant related genes	Relation type
GORAB	TF binding region
ENSG00000231407	TF binding region
ENSG00000000457	Chromatin interaction
ENSG00000120370	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10157186	0.83[ASN][1000 genomes]
rs10800525	0.83[ASN][1000 genomes]
rs10919415	0.83[ASN][1000 genomes]
rs12021752	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036605	0.81[EUR][1000 genomes]
rs12049300	0.83[ASN][1000 genomes]
rs12562422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564005	0.95[EUR][1000 genomes]
rs16863425	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4539190	0.88[EUR][1000 genomes]
rs4656778	0.87[ASN][1000 genomes]
rs4656785	0.89[EUR][1000 genomes]
rs61826201	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678578	0.89[EUR][1000 genomes]
rs6688821	0.94[ASN][1000 genomes]
rs7538037	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170500000-170504000	Active TSS	NHLF	lung
2	chr1:170501800-170516000	Weak transcription	Spleen	Spleen
3	chr1:170502000-170506200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:170502000-170506200	Weak transcription	Gastric	stomach
5	chr1:170502000-170508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:170502000-170515200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:170502000-170517200	Weak transcription	Esophagus	oesophagus
8	chr1:170502200-170508200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:170502200-170508400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:170502200-170508400	Weak transcription	Placenta	Placenta
11	chr1:170502200-170508400	Weak transcription	Fetal Thymus	thymus
12	chr1:170502200-170508400	Weak transcription	Thymus	Thymus
13	chr1:170502200-170521000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:170502400-170504000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:170502400-170504200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:170502400-170506400	Weak transcription	Right Atrium	heart
17	chr1:170502400-170512200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:170502400-170514800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:170502600-170504000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:170502600-170507200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:170502600-170507800	Weak transcription	Fetal Lung	lung
22	chr1:170502600-170508400	Weak transcription	Fetal Intestine Small	intestine
23	chr1:170502600-170508600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:170502600-170508600	Weak transcription	Fetal Brain Female	brain
25	chr1:170502600-170509000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:170502600-170509800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:170502600-170510200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:170502600-170510200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:170502600-170511600	Weak transcription	Brain Substantia Nigra	brain
30	chr1:170502600-170512000	Weak transcription	Aorta	Aorta
31	chr1:170502600-170520800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:170502600-170523400	Weak transcription	Fetal Brain Male	brain
33	chr1:170502800-170504200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:170502800-170504600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:170502800-170504800	Enhancers	HepG2	liver
36	chr1:170502800-170505400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:170502800-170506000	Weak transcription	Stomach Mucosa	stomach
38	chr1:170502800-170506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:170502800-170506400	Weak transcription	Psoas Muscle	Psoas
40	chr1:170502800-170506400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:170502800-170506800	Weak transcription	A549	lung
42	chr1:170502800-170507200	Weak transcription	HUVEC	blood vessel
43	chr1:170502800-170507600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr1:170502800-170507800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:170502800-170508200	Weak transcription	Fetal Stomach	stomach
46	chr1:170502800-170508400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:170502800-170508400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:170502800-170508400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:170502800-170508400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:170502800-170508400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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