Variant report

Variant	rs72947892
Chromosome Location	chr4:148604572-148604573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148578289..148581329-chr4:148601493..148604783,3	K562	blood:
2	chr4:148602322..148606656-chr4:148649854..148654389,6	MCF-7	breast:
3	chr4:148602747..148604694-chr4:148786468..148788057,2	MCF-7	breast:
4	chr4:148604484..148605001-chr4:148787305..148788147,2	MCF-7	breast:
5	chr4:148538536..148540743-chr4:148603744..148605353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction
ENSG00000164168	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10011891	0.83[AMR][1000 genomes]
rs10023419	0.83[AMR][1000 genomes]
rs10029636	0.83[AMR][1000 genomes]
rs10034181	0.83[AMR][1000 genomes]
rs11931510	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11932755	1.00[AMR][1000 genomes]
rs11932883	1.00[AMR][1000 genomes]
rs17023581	0.85[AMR][1000 genomes]
rs28416885	0.83[AMR][1000 genomes]
rs28579791	0.83[AMR][1000 genomes]
rs28676674	0.85[AMR][1000 genomes]
rs34001293	1.00[AMR][1000 genomes]
rs57632432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58012022	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58285779	1.00[AMR][1000 genomes]
rs58965352	0.83[AMR][1000 genomes]
rs59938265	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61312957	1.00[AMR][1000 genomes]
rs61355480	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61363583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945871	1.00[AMR][1000 genomes]
rs72945873	1.00[AMR][1000 genomes]
rs72945877	1.00[AMR][1000 genomes]
rs72945879	1.00[AMR][1000 genomes]
rs72945896	1.00[AMR][1000 genomes]
rs72947812	1.00[AMR][1000 genomes]
rs72947824	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947833	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949789	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949795	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949796	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949798	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72951406	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72951412	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72951422	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72951423	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72953473	0.83[AMR][1000 genomes]
rs72953477	0.83[AMR][1000 genomes]
rs72953481	0.83[AMR][1000 genomes]
rs72953502	0.83[AMR][1000 genomes]
rs72955506	0.83[AMR][1000 genomes]
rs9993312	0.85[AMR][1000 genomes]
rs9996365	0.83[AMR][1000 genomes]
rs9997304	0.83[AMR][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv3329646	chr4:148590774-148611959	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148554600-148604600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:148577400-148604600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:148581800-148604600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:148603600-148605400	Active TSS	Hela-S3	cervix
5	chr4:148603800-148604600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr4:148603800-148604600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr4:148603800-148604600	Enhancers	Small Intestine	intestine
8	chr4:148603800-148604600	Flanking Active TSS	Dnd41	blood
9	chr4:148603800-148604600	Flanking Active TSS	HUVEC	blood vessel
10	chr4:148603800-148604800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:148603800-148604800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr4:148603800-148604800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr4:148603800-148604800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:148603800-148604800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr4:148603800-148605400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:148603800-148605600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr4:148603800-148605600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr4:148603800-148605800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:148603800-148605800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:148603800-148605800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:148603800-148605800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:148603800-148606000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:148603800-148606000	Active TSS	Ovary	ovary
24	chr4:148603800-148606000	Active TSS	Psoas Muscle	Psoas
25	chr4:148603800-148606200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:148603800-148606200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr4:148603800-148606200	Active TSS	Stomach Smooth Muscle	stomach
28	chr4:148604000-148604600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr4:148604000-148604600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr4:148604000-148604600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr4:148604000-148604800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:148604000-148604800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr4:148604000-148604800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr4:148604000-148605000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:148604000-148605800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:148604000-148605800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:148604000-148605800	Active TSS	Fetal Brain Female	brain
38	chr4:148604000-148605800	Active TSS	HSMMtube	muscle
39	chr4:148604000-148606000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:148604000-148606000	Active TSS	Right Atrium	heart
41	chr4:148604000-148606200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr4:148604000-148606200	Active TSS	Brain Cingulate Gyrus	brain
43	chr4:148604200-148604600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:148604200-148604600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr4:148604200-148604600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr4:148604200-148604600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:148604200-148604600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr4:148604200-148604600	Active TSS	HepG2	liver
49	chr4:148604200-148604800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr4:148604200-148605000	Flanking Active TSS	Primary B cells from cord blood	blood

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