Variant report

Variant	rs726038
Chromosome Location	chr5:112365261-112365262
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	chr5:112363970..112366861-chr5:112379639..112381179,2	K562	blood:
2	chr5:112365166..112368140-chr5:112517224..112519156,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11949661	1.00[AMR][1000 genomes]
rs11955020	1.00[AMR][1000 genomes]
rs17135245	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59624235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6883462	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73221991	1.00[AMR][1000 genomes]
rs73223916	1.00[AMR][1000 genomes]
rs73227402	1.00[AMR][1000 genomes]
rs73229007	1.00[AMR][1000 genomes]
rs73235110	1.00[AMR][1000 genomes]
rs73235120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235125	0.95[AFR][1000 genomes];1.00[AMR][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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
5	chr5:112349800-112366600	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:112352400-112367800	Strong transcription	Liver	Liver
7	chr5:112354600-112365400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:112356400-112365400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:112358600-112365400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:112358800-112366000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:112359600-112365400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:112359600-112365800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:112359600-112367800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:112359800-112365400	Strong transcription	Left Ventricle	heart
15	chr5:112359800-112365600	Strong transcription	Fetal Muscle Leg	muscle
16	chr5:112359800-112365800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr5:112360000-112365400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
19	chr5:112360200-112365400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:112360200-112368600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:112360400-112367200	Weak transcription	GM12878-XiMat	blood
22	chr5:112360400-112367600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:112360400-112368000	Weak transcription	Primary B cells from cord blood	blood
24	chr5:112360400-112368400	Weak transcription	Stomach Mucosa	stomach
25	chr5:112361000-112368000	Strong transcription	Fetal Stomach	stomach
26	chr5:112361400-112365400	Weak transcription	Right Atrium	heart
27	chr5:112361400-112365800	Strong transcription	Ovary	ovary
28	chr5:112361400-112365800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr5:112361400-112366200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:112361400-112367400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:112361400-112368200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:112361600-112365600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:112361800-112365600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:112361800-112366000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr5:112362400-112365400	Weak transcription	Fetal Heart	heart
36	chr5:112362400-112365600	Strong transcription	Primary T cells from cord blood	blood
37	chr5:112362400-112365600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:112362400-112365800	Strong transcription	Esophagus	oesophagus
39	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:112363000-112365800	Strong transcription	Thymus	Thymus
41	chr5:112363000-112374000	Weak transcription	Pancreas	Pancrea
42	chr5:112363200-112365400	Weak transcription	Brain Angular Gyrus	brain
43	chr5:112363200-112366200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:112363600-112365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:112363600-112365400	Weak transcription	NHLF	lung
46	chr5:112363600-112366000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:112363600-112366200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:112363600-112368400	Weak transcription	Psoas Muscle	Psoas
49	chr5:112363600-112368600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain

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