Variant report

Variant	rs5744622
Chromosome Location	chr5:74850428-74850429
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	chr5:74845037..74847535-chr5:74848930..74850561,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17238344	1.00[AMR][1000 genomes]
rs17238351	1.00[AMR][1000 genomes]
rs17238358	1.00[AMR][1000 genomes]
rs17238393	1.00[AMR][1000 genomes]
rs17244771	1.00[AMR][1000 genomes]
rs17244778	1.00[AMR][1000 genomes]
rs17244827	1.00[AMR][1000 genomes]
rs17244876	1.00[AMR][1000 genomes]
rs5744538	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744697	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6805	1.00[AMR][1000 genomes]
rs6888071	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv882204	chr5:74811497-74856142	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv882205	chr5:74811497-74862921	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
2	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
3	chr5:74822800-74896000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:74826000-74862400	Weak transcription	Fetal Heart	heart
5	chr5:74831000-74852600	Weak transcription	Aorta	Aorta
6	chr5:74831000-74859000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:74831000-74862400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:74831200-74877200	Weak transcription	Fetal Kidney	kidney
9	chr5:74832400-74859000	Weak transcription	Brain Angular Gyrus	brain
10	chr5:74832800-74861400	Weak transcription	Gastric	stomach
11	chr5:74833000-74855400	Weak transcription	Esophagus	oesophagus
12	chr5:74833000-74860600	Weak transcription	A549	lung
13	chr5:74833000-74861600	Weak transcription	Spleen	Spleen
14	chr5:74833200-74862600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:74833400-74851000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:74833400-74852600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:74833400-74861600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:74833400-74861600	Weak transcription	Pancreas	Pancrea
19	chr5:74833400-74862000	Weak transcription	Lung	lung
20	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
21	chr5:74834600-74862400	Weak transcription	Small Intestine	intestine
22	chr5:74837600-74874400	Weak transcription	Fetal Brain Male	brain
23	chr5:74839400-74897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:74840400-74850800	Weak transcription	Fetal Stomach	stomach
25	chr5:74840400-74852600	Weak transcription	Fetal Intestine Small	intestine
26	chr5:74840400-74852800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:74840400-74862400	Weak transcription	Ovary	ovary
28	chr5:74841000-74853000	Weak transcription	Psoas Muscle	Psoas
29	chr5:74841200-74861800	Weak transcription	Right Ventricle	heart
30	chr5:74841200-74899400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:74841800-74861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:74842200-74853400	Weak transcription	Brain Germinal Matrix	brain
33	chr5:74843600-74850800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:74844600-74853000	Weak transcription	Brain Anterior Caudate	brain
35	chr5:74845200-74854800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:74845800-74852200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:74846000-74852200	Strong transcription	Primary T cells from cord blood	blood
38	chr5:74846200-74853200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:74846200-74865400	Weak transcription	Colonic Mucosa	Colon
40	chr5:74847200-74852400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr5:74847200-74852800	Weak transcription	Fetal Brain Female	brain
42	chr5:74847200-74861800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:74847400-74851400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr5:74847400-74853800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:74847400-74853800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:74847400-74854000	Strong transcription	Dnd41	blood
47	chr5:74847600-74850800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:74847600-74851000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:74847600-74851000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr5:74847600-74853600	Strong transcription	Primary B cells from cord blood	blood

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