Variant report

Variant	rs35227303
Chromosome Location	chr4:56759472-56759473
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56758636..56761129-chr4:56795006..56797729,2	K562	blood:
2	chr4:56747163..56749341-chr4:56759165..56761780,2	MCF-7	breast:
3	chr4:56749868..56752513-chr4:56758146..56759826,2	K562	blood:
4	chr4:56749868..56753196-chr4:56757101..56759826,3	K562	blood:

Variant related genes	Relation type
ENSG00000222954	Chromatin interaction
ENSG00000090989	Chromatin interaction
ENSG00000202358	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10027680	0.81[EUR][1000 genomes]
rs11935692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103032	0.81[EUR][1000 genomes]
rs13117307	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13147883	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447046	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447047	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1816932	0.97[ASN][1000 genomes]
rs2121516	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28452073	0.81[EUR][1000 genomes]
rs35353052	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs749781	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv879024	chr4:56742205-56786589	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv879025	chr4:56742205-56808607	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
4	chr4:56733200-56763000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:56733600-56763000	Weak transcription	Stomach Mucosa	stomach
6	chr4:56733800-56772200	Weak transcription	Hela-S3	cervix
7	chr4:56733800-56772800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:56734400-56773000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:56734600-56773400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:56735000-56768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:56736000-56762400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:56737000-56774800	Weak transcription	Psoas Muscle	Psoas
13	chr4:56737600-56763400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:56738000-56771400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:56739800-56759800	Weak transcription	HMEC	breast
16	chr4:56745600-56760000	Weak transcription	Fetal Kidney	kidney
17	chr4:56745800-56759800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:56745800-56772800	Weak transcription	Small Intestine	intestine
19	chr4:56747800-56759600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:56747800-56759800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:56747800-56760000	Weak transcription	Fetal Brain Male	brain
22	chr4:56747800-56772800	Weak transcription	NHEK	skin
23	chr4:56748000-56763400	Weak transcription	Brain Angular Gyrus	brain
24	chr4:56748000-56763800	Weak transcription	Esophagus	oesophagus
25	chr4:56748000-56770000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:56748000-56772000	Weak transcription	NHLF	lung
27	chr4:56748000-56773200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:56748200-56760000	Weak transcription	Spleen	Spleen
29	chr4:56748200-56762000	Weak transcription	HSMMtube	muscle
30	chr4:56748200-56773400	Weak transcription	Gastric	stomach
31	chr4:56748400-56759600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:56748400-56762600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:56748400-56765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:56748400-56770200	Weak transcription	HepG2	liver
35	chr4:56748600-56760000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:56748600-56760000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:56748600-56760000	Weak transcription	Pancreas	Pancrea
38	chr4:56748600-56760000	Weak transcription	Thymus	Thymus
39	chr4:56748600-56763600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:56748600-56763800	Weak transcription	Aorta	Aorta
41	chr4:56748600-56765800	Weak transcription	Lung	lung
42	chr4:56748600-56766000	Weak transcription	Ovary	ovary
43	chr4:56748600-56767200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:56748600-56768600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:56748600-56773000	Weak transcription	Right Ventricle	heart
46	chr4:56748600-56773200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:56748600-56773400	Weak transcription	Colonic Mucosa	Colon
48	chr4:56748600-56776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:56749000-56759600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:56750400-56760000	Weak transcription	GM12878-XiMat	blood

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