Variant report

Variant	rs73236137
Chromosome Location	chr4:56281769-56281770
allele	C/T
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	POLR2A	chr4:56280993-56281908	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56280205..56283146-chr4:56283949..56286738,4	K562	blood:
2	chr4:56280205..56282229-chr4:56283949..56285527,2	K562	blood:

Variant related genes	Relation type
ENSG00000203615	TF binding region
TMEM165	TF binding region
ENSG00000134851	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11721546	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11724565	0.88[ASN][1000 genomes]
rs11727586	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11733128	0.88[ASN][1000 genomes]
rs2459220	0.89[ASN][1000 genomes]
rs471546	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480531	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4864984	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491381	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504836	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505861	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530875	0.92[EUR][1000 genomes]
rs532768	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534654	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549564	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566240	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554276	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66630638	0.88[ASN][1000 genomes]
rs711533	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663955	0.89[ASN][1000 genomes]
rs7664496	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669259	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7672647	0.82[ASN][1000 genomes]
rs7673897	0.88[ASN][1000 genomes]
rs7692795	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697835	0.88[ASN][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	chr4:56264800-56282200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:56264800-56292200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:56265600-56283800	Weak transcription	Fetal Brain Male	brain
4	chr4:56265600-56286000	Weak transcription	Colonic Mucosa	Colon
5	chr4:56265600-56289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:56265600-56319800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:56266000-56283200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:56267400-56282800	Weak transcription	Small Intestine	intestine
9	chr4:56267400-56283200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:56268800-56326000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:56269000-56311400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:56270200-56282800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:56270400-56286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:56272600-56282800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:56273400-56283200	Weak transcription	Brain Germinal Matrix	brain
16	chr4:56273600-56282200	Weak transcription	Pancreas	Pancrea
17	chr4:56273800-56283200	Weak transcription	Psoas Muscle	Psoas
18	chr4:56274200-56284600	Strong transcription	K562	blood
19	chr4:56274600-56282000	Weak transcription	Ovary	ovary
20	chr4:56274600-56332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:56275600-56292400	Weak transcription	Stomach Mucosa	stomach
22	chr4:56275800-56300000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:56275800-56302200	Strong transcription	Fetal Thymus	thymus
24	chr4:56276000-56286400	Weak transcription	Gastric	stomach
25	chr4:56276000-56302400	Strong transcription	Dnd41	blood
26	chr4:56276000-56320000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:56276200-56282200	Weak transcription	Right Ventricle	heart
28	chr4:56276200-56282200	Weak transcription	Spleen	Spleen
29	chr4:56276200-56282400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:56276200-56282800	Weak transcription	Brain Anterior Caudate	brain
31	chr4:56276200-56283000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:56276200-56292400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:56276200-56296800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:56276200-56304400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:56276200-56310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:56276400-56282200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:56276400-56297800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:56276600-56282400	Weak transcription	Fetal Lung	lung
39	chr4:56276600-56296400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:56276600-56303400	Strong transcription	Osteobl	bone
41	chr4:56276600-56305000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr4:56276800-56282800	Weak transcription	Aorta	Aorta
43	chr4:56276800-56283000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:56276800-56283200	Weak transcription	Colon Smooth Muscle	Colon
45	chr4:56277000-56292600	Weak transcription	Fetal Heart	heart
46	chr4:56277000-56296800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:56277400-56302400	Strong transcription	HSMM	muscle
48	chr4:56277400-56306000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:56277600-56287800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:56277600-56301800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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