Variant report

Variant	rs57793152
Chromosome Location	chr5:98233723-98233724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98232275..98236277-chr5:98262376..98265516,4	K562	blood:
2	chr5:98215108..98217532-chr5:98233195..98234984,2	K562	blood:
3	chr5:98232177..98234345-chr5:98238725..98241522,2	K562	blood:
4	chr5:98233648..98237823-chr5:98238071..98240258,3	K562	blood:

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55844753	1.00[EUR][1000 genomes]
rs55862038	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56898185	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58224759	1.00[EUR][1000 genomes]
rs59325325	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61199566	1.00[EUR][1000 genomes]
rs6596551	1.00[EUR][1000 genomes]
rs73776026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73776032	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98188400-98247000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:98189600-98241000	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:98189800-98241000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:98189800-98241400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:98189800-98241400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:98189800-98241800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:98190000-98240600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:98190000-98240800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr5:98190000-98240800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:98190200-98240600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:98190200-98240600	Strong transcription	Liver	Liver
12	chr5:98190200-98241000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:98190400-98234600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:98190400-98238200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:98190400-98238800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:98190400-98240000	Weak transcription	Stomach Mucosa	stomach
17	chr5:98190400-98240400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:98190400-98240600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr5:98190400-98240800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:98190400-98241200	Strong transcription	Fetal Thymus	thymus
21	chr5:98190400-98243800	Strong transcription	Dnd41	blood
22	chr5:98190600-98240600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:98190600-98240800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:98190600-98240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:98190600-98241000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:98190800-98240000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:98191000-98240800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:98195200-98240800	Strong transcription	Primary B cells from cord blood	blood
29	chr5:98196200-98234000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:98198400-98240800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:98200000-98263000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:98200200-98240400	Strong transcription	HSMM	muscle
33	chr5:98200600-98240800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr5:98203000-98238200	Strong transcription	HUVEC	blood vessel
35	chr5:98203800-98238800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:98207800-98240000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:98209400-98234000	Weak transcription	Fetal Brain Male	brain
38	chr5:98210400-98238200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:98211400-98241200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:98212000-98236800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:98212000-98237200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:98214400-98234000	Weak transcription	Psoas Muscle	Psoas
43	chr5:98215000-98234400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:98215000-98263000	Weak transcription	Esophagus	oesophagus
45	chr5:98216200-98235200	Weak transcription	Small Intestine	intestine
46	chr5:98216600-98238000	Strong transcription	Osteobl	bone
47	chr5:98216800-98234400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:98216800-98241400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:98219800-98240400	Strong transcription	Adipose Nuclei	Adipose
50	chr5:98220000-98235600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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