Variant report

Variant	rs7692795
Chromosome Location	chr4:56279552-56279553
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	POLR2A	chr4:56279498-56279605	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000203615	TF binding region
TMEM165	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11721546	0.88[ASN][1000 genomes]
rs11724565	0.88[ASN][1000 genomes]
rs11727586	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11733128	0.88[ASN][1000 genomes]
rs2459220	0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs471546	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480479	0.82[AFR][1000 genomes]
rs480531	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4864984	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504836	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505861	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530875	0.91[EUR][1000 genomes]
rs532768	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534654	1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549564	1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566240	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576779	0.82[AFR][1000 genomes]
rs6554276	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66630638	0.88[ASN][1000 genomes]
rs711533	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236137	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663955	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7664496	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669259	0.87[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]
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	chr4:56265600-56281600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:56265600-56283800	Weak transcription	Fetal Brain Male	brain
5	chr4:56265600-56286000	Weak transcription	Colonic Mucosa	Colon
6	chr4:56265600-56289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:56265600-56319800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:56265800-56281200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:56266000-56283200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:56267400-56280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:56267400-56282800	Weak transcription	Small Intestine	intestine
12	chr4:56267400-56283200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:56267600-56280800	Weak transcription	A549	lung
14	chr4:56268800-56326000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:56269000-56311400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr4:56270000-56281000	Weak transcription	Fetal Kidney	kidney
17	chr4:56270200-56281000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:56270200-56281600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:56270200-56282800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:56270400-56286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:56272400-56281000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:56272600-56282800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:56273200-56279600	Weak transcription	Fetal Brain Female	brain
24	chr4:56273400-56283200	Weak transcription	Brain Germinal Matrix	brain
25	chr4:56273600-56282200	Weak transcription	Pancreas	Pancrea
26	chr4:56273800-56281600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:56273800-56283200	Weak transcription	Psoas Muscle	Psoas
28	chr4:56274200-56280200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:56274200-56280200	Weak transcription	Fetal Intestine Large	intestine
30	chr4:56274200-56280800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:56274200-56281600	Weak transcription	Liver	Liver
32	chr4:56274200-56284600	Strong transcription	K562	blood
33	chr4:56274600-56282000	Weak transcription	Ovary	ovary
34	chr4:56274600-56332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:56275600-56292400	Weak transcription	Stomach Mucosa	stomach
36	chr4:56275800-56300000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:56275800-56302200	Strong transcription	Fetal Thymus	thymus
38	chr4:56276000-56280600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:56276000-56280600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:56276000-56286400	Weak transcription	Gastric	stomach
41	chr4:56276000-56302400	Strong transcription	Dnd41	blood
42	chr4:56276000-56320000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:56276200-56280600	Weak transcription	NHLF	lung
44	chr4:56276200-56280800	Weak transcription	Primary T cells from cord blood	blood
45	chr4:56276200-56281000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:56276200-56281600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:56276200-56282200	Weak transcription	Right Ventricle	heart
48	chr4:56276200-56282200	Weak transcription	Spleen	Spleen
49	chr4:56276200-56282400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:56276200-56282800	Weak transcription	Brain Anterior Caudate	brain

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