Variant report

Variant	rs72651388
Chromosome Location	chr4:76868277-76868278
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	chr4:76868260-76868439	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76866002..76869034-chr4:76870161..76872901,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NAAA-1	chr4:76867721-76868384	ucscGeneNc_uc010iiy_1

Variant related genes	Relation type
ENSG00000268788	TF binding region
ENSG00000268788	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34627298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35569453	0.82[ASN][1000 genomes]
rs56296558	0.90[EUR][1000 genomes]
rs868007	0.82[ASN][1000 genomes]
rs884005	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76862000-76871600	Weak transcription	Fetal Kidney	kidney
2	chr4:76862000-76875600	Weak transcription	Fetal Heart	heart
3	chr4:76862000-76896600	Weak transcription	Stomach Mucosa	stomach
4	chr4:76862200-76871000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:76862200-76871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:76862200-76875200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:76862200-76876400	Weak transcription	Gastric	stomach
8	chr4:76862200-76876600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:76862200-76886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:76862400-76868400	Weak transcription	Ovary	ovary
11	chr4:76862400-76868400	Weak transcription	HSMMtube	muscle
12	chr4:76862400-76868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:76862400-76873400	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:76862400-76875400	Weak transcription	Spleen	Spleen
15	chr4:76862400-76876600	Weak transcription	Aorta	Aorta
16	chr4:76862400-76876600	Weak transcription	Small Intestine	intestine
17	chr4:76862600-76868400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:76862600-76868400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:76862600-76868400	Weak transcription	Dnd41	blood
20	chr4:76862600-76869200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:76862600-76869800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:76862600-76870600	Weak transcription	Brain Substantia Nigra	brain
23	chr4:76862600-76870800	Weak transcription	Brain Germinal Matrix	brain
24	chr4:76862600-76871000	Weak transcription	Brain Angular Gyrus	brain
25	chr4:76862600-76871000	Weak transcription	Brain Anterior Caudate	brain
26	chr4:76862600-76871400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:76862600-76871400	Weak transcription	Right Ventricle	heart
28	chr4:76862600-76871600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:76862600-76872000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:76862600-76872000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:76862600-76873200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:76862600-76873400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:76862600-76873400	Weak transcription	NHLF	lung
34	chr4:76862600-76873600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:76862600-76874400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:76862600-76876000	Weak transcription	Psoas Muscle	Psoas
37	chr4:76862600-76876400	Weak transcription	Esophagus	oesophagus
38	chr4:76862600-76876400	Weak transcription	Fetal Brain Male	brain
39	chr4:76862600-76876400	Weak transcription	Pancreas	Pancrea
40	chr4:76862600-76876800	Weak transcription	Hela-S3	cervix
41	chr4:76862800-76868400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:76862800-76868400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:76862800-76868400	Weak transcription	Placenta	Placenta
44	chr4:76862800-76869800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:76863000-76868400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:76863000-76903600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:76863600-76870000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:76863800-76884600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:76864600-76884800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:76864800-76875200	Strong transcription	HSMM	muscle

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