Variant report

Variant	rs73151872
Chromosome Location	chr4:56310473-56310474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56309719..56312179-chr4:56315380..56317885,2	K562	blood:
2	chr4:56309987..56312642-chr4:56314579..56316616,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57778451	0.96[AFR][1000 genomes]
rs6813118	0.80[AFR][1000 genomes]
rs6856752	0.88[AFR][1000 genomes]
rs73151816	0.80[AFR][1000 genomes]
rs73151818	0.80[AFR][1000 genomes]
rs73151843	1.00[AFR][1000 genomes]
rs73151844	0.96[AFR][1000 genomes]
rs73151851	0.96[AFR][1000 genomes]
rs73153615	0.92[AFR][1000 genomes]
rs73155692	0.88[AFR][1000 genomes]
rs7655037	0.84[AFR][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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1011722	chr4:56261349-56325600	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr4:56265600-56319800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:56268800-56326000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:56269000-56311400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:56274600-56332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:56276000-56320000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:56279000-56321800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:56280800-56311000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:56288400-56318400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:56290800-56340400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:56290800-56340600	Weak transcription	Thymus	Thymus
11	chr4:56293000-56324800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:56293000-56354800	Weak transcription	Aorta	Aorta
13	chr4:56294000-56311400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:56294000-56341200	Weak transcription	Small Intestine	intestine
15	chr4:56296200-56314600	Weak transcription	Psoas Muscle	Psoas
16	chr4:56296200-56314600	Weak transcription	Hela-S3	cervix
17	chr4:56299600-56311400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:56301600-56310800	Weak transcription	Ovary	ovary
19	chr4:56301600-56334800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:56301800-56313200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:56301800-56314000	Weak transcription	A549	lung
22	chr4:56301800-56314200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:56301800-56316200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:56301800-56316200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:56301800-56318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:56301800-56318000	Weak transcription	Right Ventricle	heart
27	chr4:56301800-56332200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:56301800-56339200	Weak transcription	Fetal Brain Male	brain
29	chr4:56302000-56314000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:56302200-56312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:56302200-56313200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:56302200-56313400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:56302200-56313600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:56302200-56314000	Weak transcription	Fetal Heart	heart
35	chr4:56302200-56314400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:56302200-56314800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:56302200-56315600	Weak transcription	Fetal Stomach	stomach
38	chr4:56302400-56375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:56302600-56311600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:56303000-56311400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:56303000-56340200	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:56303200-56311200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:56303600-56314200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:56304000-56331800	Weak transcription	Esophagus	oesophagus
45	chr4:56304600-56316200	Weak transcription	Lung	lung
46	chr4:56304600-56365600	Weak transcription	Spleen	Spleen
47	chr4:56304800-56311400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:56304800-56311400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:56304800-56314000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:56304800-56314600	Weak transcription	Colonic Mucosa	Colon

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