Variant report

Variant	rs12331143
Chromosome Location	chr4:56892724-56892725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56892290..56896068-chr4:56908749..56911590,3	K562	blood:
2	chr4:56892616..56894598-chr4:56896306..56899212,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10004239	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10022738	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10213231	1.00[AMR][1000 genomes]
rs17086211	1.00[AMR][1000 genomes]
rs28368303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28376464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28470583	1.00[AMR][1000 genomes]
rs28472737	1.00[AMR][1000 genomes]
rs28573719	1.00[AMR][1000 genomes]
rs28587231	1.00[AMR][1000 genomes]
rs28590097	1.00[AMR][1000 genomes]
rs28611007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649591	1.00[AMR][1000 genomes]
rs28695752	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28744399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28770194	1.00[AMR][1000 genomes]
rs9992612	0.91[AFR][1000 genomes];1.00[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56816600-56896400	Weak transcription	Fetal Heart	heart
2	chr4:56819000-56897400	Weak transcription	HSMMtube	muscle
3	chr4:56823600-56893800	Weak transcription	HMEC	breast
4	chr4:56835400-56904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:56837200-56905000	Weak transcription	Brain Substantia Nigra	brain
6	chr4:56839800-56896600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:56857600-56897400	Strong transcription	Fetal Thymus	thymus
8	chr4:56857600-56898200	Strong transcription	Dnd41	blood
9	chr4:56857600-56898200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:56864600-56894200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:56865400-56894400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:56866200-56895000	Weak transcription	Lung	lung
13	chr4:56866800-56896000	Weak transcription	Small Intestine	intestine
14	chr4:56867000-56895000	Weak transcription	Psoas Muscle	Psoas
15	chr4:56872200-56893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:56872200-56904800	Weak transcription	HepG2	liver
17	chr4:56873400-56897000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:56876600-56895400	Weak transcription	Brain Anterior Caudate	brain
19	chr4:56879000-56892800	Weak transcription	NHEK	skin
20	chr4:56879200-56893400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:56880000-56897400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:56880400-56897200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:56880600-56898200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:56883600-56897200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:56883800-56893400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr4:56883800-56895800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:56883800-56897000	Strong transcription	Adipose Nuclei	Adipose
28	chr4:56883800-56897600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:56885200-56895200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:56886400-56892800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:56886400-56899600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:56887200-56892800	Weak transcription	NH-A	brain
33	chr4:56887800-56893400	Strong transcription	Ovary	ovary
34	chr4:56887800-56897200	Strong transcription	Thymus	Thymus
35	chr4:56888600-56898600	Weak transcription	Gastric	stomach
36	chr4:56890400-56893800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:56890400-56897000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:56890400-56897200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr4:56890600-56892800	Strong transcription	Brain Hippocampus Middle	brain
40	chr4:56890600-56893400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:56890600-56893600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:56890600-56893600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:56890600-56893800	Strong transcription	Placenta	Placenta
44	chr4:56890600-56894000	Strong transcription	A549	lung
45	chr4:56890600-56894200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:56890600-56894200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:56890600-56894400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:56890600-56894400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr4:56890600-56894600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:56890600-56894600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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