Variant report

Variant	rs17213962
Chromosome Location	chr5:41867930-41867931
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:41865564..41868288-chr5:41873378..41876329,4	K562	blood:
2	chr5:41866741..41868541-chr5:42502813..42504504,2	K562	blood:
3	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
4	chr5:41866693..41874585-chr5:41920680..41930326,14	K562	blood:
5	chr5:41867500..41871930-chr5:41901815..41908844,17	K562	blood:
6	chr5:41676941..41679139-chr5:41866132..41868129,2	K562	blood:
7	chr5:41866734..41868498-chr5:41868516..41871487,2	MCF-7	breast:
8	chr5:41866709..41868950-chr5:41930527..41932665,2	K562	blood:
9	chr5:41864208..41872390-chr5:41920936..41926995,11	K562	blood:
10	chr5:41864530..41869583-chr5:41903151..41906093,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083720	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000205765	Chromatin interaction
ENSG00000151876	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11958154	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12054714	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12659601	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13176076	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35520000	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv4811	chr5:41844522-41887353	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41832800-41869200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:41841800-41869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:41849800-41869000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:41850400-41868800	Weak transcription	Fetal Brain Male	brain
5	chr5:41850400-41869000	Weak transcription	Esophagus	oesophagus
6	chr5:41850400-41869000	Weak transcription	Fetal Heart	heart
7	chr5:41850400-41869000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:41851000-41869400	Weak transcription	Psoas Muscle	Psoas
9	chr5:41851200-41869000	Weak transcription	Stomach Mucosa	stomach
10	chr5:41852200-41869000	Weak transcription	Brain Germinal Matrix	brain
11	chr5:41852200-41869000	Weak transcription	Gastric	stomach
12	chr5:41852200-41869000	Weak transcription	Right Ventricle	heart
13	chr5:41852200-41869200	Weak transcription	Brain Substantia Nigra	brain
14	chr5:41852400-41869000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:41852400-41869400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:41852800-41868800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:41852800-41868800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:41853000-41869000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:41853000-41869000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:41853000-41869000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:41853000-41869000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:41853200-41869200	Weak transcription	Lung	lung
23	chr5:41853200-41869400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:41853400-41869000	Weak transcription	Fetal Intestine Small	intestine
25	chr5:41853400-41869000	Weak transcription	Fetal Stomach	stomach
26	chr5:41853600-41869000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:41854200-41869200	Weak transcription	Small Intestine	intestine
28	chr5:41854200-41869200	Weak transcription	HSMM	muscle
29	chr5:41855400-41869000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:41855800-41868800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:41856200-41869000	Weak transcription	Aorta	Aorta
32	chr5:41856400-41869200	Weak transcription	Fetal Intestine Large	intestine
33	chr5:41856600-41869400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:41856800-41869000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:41856800-41869000	Weak transcription	Thymus	Thymus
36	chr5:41857000-41868800	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:41860600-41868800	Weak transcription	Fetal Lung	lung
38	chr5:41861400-41869000	Weak transcription	Fetal Kidney	kidney
39	chr5:41861600-41869200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:41861800-41868800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:41861800-41869000	Weak transcription	Brain Anterior Caudate	brain
42	chr5:41861800-41869000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:41862000-41868800	Weak transcription	Adipose Nuclei	Adipose
44	chr5:41862000-41868800	Weak transcription	HMEC	breast
45	chr5:41862000-41869000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr5:41862000-41869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:41862000-41869000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:41862000-41869200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr5:41862200-41869000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:41862200-41869000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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