Variant report

Variant	rs9997863
Chromosome Location	chr4:53582376-53582377
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53581143..53582877-chr4:53845508..53847692,2	K562	blood:
2	chr4:53581870..53584689-chr4:53600296..53602853,2	K562	blood:
3	chr4:53523849..53530507-chr4:53576531..53584814,17	K562	blood:
4	chr4:53524915..53526436-chr4:53582078..53584814,2	K562	blood:

Variant related genes	Relation type
ENSG00000248866	Chromatin interaction
ENSG00000109189	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10000311	1.00[ASN][1000 genomes]
rs10001085	0.93[ASN][1000 genomes]
rs10001370	0.87[ASN][1000 genomes]
rs10001387	0.93[ASN][1000 genomes]
rs10002261	0.90[ASN][1000 genomes]
rs10003396	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10010306	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10012676	0.87[ASN][1000 genomes]
rs10014752	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10014850	0.94[ASN][1000 genomes]
rs10020568	0.90[ASN][1000 genomes]
rs10021143	0.93[ASN][1000 genomes]
rs10023867	0.93[ASN][1000 genomes]
rs10027906	0.90[ASN][1000 genomes]
rs10028085	0.90[ASN][1000 genomes]
rs10028755	0.90[ASN][1000 genomes]
rs10029145	0.93[ASN][1000 genomes]
rs10031386	1.00[ASN][1000 genomes]
rs10032700	1.00[ASN][1000 genomes]
rs10033218	1.00[ASN][1000 genomes]
rs10471216	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13434726	0.87[ASN][1000 genomes]
rs13435157	0.87[ASN][1000 genomes]
rs28376189	0.90[ASN][1000 genomes]
rs28379922	0.90[ASN][1000 genomes]
rs28380682	0.93[ASN][1000 genomes]
rs28402205	1.00[ASN][1000 genomes]
rs28411005	1.00[ASN][1000 genomes]
rs28412170	0.93[ASN][1000 genomes]
rs28430452	1.00[ASN][1000 genomes]
rs28451750	0.93[ASN][1000 genomes]
rs28475600	0.93[ASN][1000 genomes]
rs28482298	0.93[ASN][1000 genomes]
rs28503210	0.93[ASN][1000 genomes]
rs28565016	0.93[ASN][1000 genomes]
rs28588481	0.94[ASN][1000 genomes]
rs28590396	1.00[ASN][1000 genomes]
rs28619184	0.93[ASN][1000 genomes]
rs28644292	0.93[ASN][1000 genomes]
rs28654693	1.00[ASN][1000 genomes]
rs28660550	1.00[ASN][1000 genomes]
rs28660571	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28672279	0.93[ASN][1000 genomes]
rs28694544	0.90[ASN][1000 genomes]
rs28721897	1.00[ASN][1000 genomes]
rs28722174	0.93[ASN][1000 genomes]
rs28784684	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28825181	0.90[ASN][1000 genomes]
rs28825412	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28849759	1.00[ASN][1000 genomes]
rs28852068	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6830833	1.00[ASN][1000 genomes]
rs7673679	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9990686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9994643	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv948860	chr4:53421172-53675549	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1005869	chr4:53571901-53649247	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 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	chr4:53579600-53583200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr4:53580000-53582600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:53580000-53582800	Strong transcription	HSMM	muscle
4	chr4:53580000-53587800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:53580000-53588000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:53580000-53588000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:53580000-53588000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:53580200-53582400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:53580200-53582600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:53580200-53587800	Weak transcription	Brain Substantia Nigra	brain
11	chr4:53580200-53587800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:53580200-53588000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:53580200-53588000	Weak transcription	Thymus	Thymus
14	chr4:53580200-53588000	Weak transcription	HSMMtube	muscle
15	chr4:53580400-53582800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:53580400-53582800	Strong transcription	Liver	Liver
17	chr4:53580400-53583000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr4:53580400-53583200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:53580400-53583200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:53580400-53583200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr4:53580400-53584200	Strong transcription	Fetal Intestine Large	intestine
22	chr4:53580400-53587800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:53580400-53587800	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:53580600-53583000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr4:53580600-53583600	Strong transcription	Primary B cells from cord blood	blood
26	chr4:53580600-53586400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:53580600-53588000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:53580800-53582600	Strong transcription	A549	lung
29	chr4:53581000-53582400	Genic enhancers	HepG2	liver
30	chr4:53581000-53582800	Genic enhancers	H1 Cell Line	embryonic stem cell
31	chr4:53581000-53582800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:53581000-53582800	Strong transcription	Brain Anterior Caudate	brain
33	chr4:53581000-53583200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:53581000-53583200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:53581000-53583200	Strong transcription	Fetal Lung	lung
36	chr4:53581000-53583400	Strong transcription	Fetal Muscle Leg	muscle
37	chr4:53581000-53583400	Strong transcription	Osteobl	bone
38	chr4:53581000-53585200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:53581000-53588000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:53581000-53588000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:53581000-53588000	Weak transcription	Aorta	Aorta
42	chr4:53581000-53588000	Weak transcription	Hela-S3	cervix
43	chr4:53581200-53583200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:53581200-53583200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr4:53581200-53583400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:53581200-53584600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:53581200-53588000	Weak transcription	Colonic Mucosa	Colon
48	chr4:53581400-53583000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:53581400-53583200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr4:53581400-53583200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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