Variant report

Variant	rs73817831
Chromosome Location	chr4:48642791-48642792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48641539..48643469-chr4:48646667..48648214,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs56837574	1.00[AFR][1000 genomes]
rs58018957	1.00[AFR][1000 genomes]
rs58763365	0.83[AFR][1000 genomes]
rs60553677	0.83[AFR][1000 genomes]
rs60750323	1.00[AFR][1000 genomes]
rs6447653	1.00[AFR][1000 genomes]
rs6811201	0.83[AFR][1000 genomes]
rs6825721	1.00[AFR][1000 genomes]
rs6854313	1.00[AFR][1000 genomes]
rs73814790	1.00[AFR][1000 genomes]
rs73814792	1.00[AFR][1000 genomes]
rs73814793	1.00[AFR][1000 genomes]
rs73814794	1.00[AFR][1000 genomes]
rs73814796	1.00[AFR][1000 genomes]
rs73814797	1.00[AFR][1000 genomes]
rs73815309	1.00[AFR][1000 genomes]
rs73815310	1.00[AFR][1000 genomes]
rs73815313	1.00[AFR][1000 genomes]
rs73815320	0.83[AFR][1000 genomes]
rs73815323	1.00[AFR][1000 genomes]
rs73817830	1.00[AFR][1000 genomes]
rs73817833	1.00[AFR][1000 genomes]
rs7665696	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48575200-48643000	Weak transcription	HSMMtube	muscle
2	chr4:48588400-48644600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:48597800-48644600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:48606800-48645000	Weak transcription	Gastric	stomach
5	chr4:48620200-48644800	Weak transcription	Fetal Stomach	stomach
6	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
7	chr4:48621800-48645000	Weak transcription	Lung	lung
8	chr4:48621800-48655800	Weak transcription	Colonic Mucosa	Colon
9	chr4:48622800-48644800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:48622800-48648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:48623400-48644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:48627200-48645000	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:48627200-48652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:48627200-48656400	Weak transcription	Fetal Intestine Small	intestine
15	chr4:48632200-48644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:48635200-48644800	Weak transcription	Aorta	Aorta
17	chr4:48635200-48654000	Weak transcription	Fetal Intestine Large	intestine
18	chr4:48635200-48655000	Weak transcription	Dnd41	blood
19	chr4:48636400-48642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:48636400-48643000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:48637600-48656400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:48637800-48643000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:48637800-48643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:48637800-48643000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:48637800-48643200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:48637800-48643400	Weak transcription	Psoas Muscle	Psoas
27	chr4:48637800-48643600	Weak transcription	HSMM	muscle
28	chr4:48637800-48644800	Weak transcription	Small Intestine	intestine
29	chr4:48637800-48644800	Weak transcription	NHLF	lung
30	chr4:48637800-48645000	Weak transcription	Left Ventricle	heart
31	chr4:48637800-48652400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:48637800-48653400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:48637800-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:48638000-48647200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:48638000-48651600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:48638000-48653800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:48638000-48655400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr4:48638000-48655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:48638000-48657200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:48638000-48663000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:48638000-48664600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:48638400-48645000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr4:48638600-48652400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr4:48638600-48655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:48638600-48666000	Weak transcription	Primary B cells from cord blood	blood
47	chr4:48639400-48643000	Weak transcription	Primary T cells from cord blood	blood
48	chr4:48639400-48653400	Weak transcription	HMEC	breast
49	chr4:48639600-48647400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:48639600-48652200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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