Variant report

Variant	rs10463627
Chromosome Location	chr5:111503893-111503894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111502114..111504029-chr5:111563689..111566571,2	K562	blood:

Variant related genes	Relation type
ENSG00000129595	Chromatin interaction
ENSG00000251076	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10900676	0.81[CHB][hapmap];0.83[AMR][1000 genomes]
rs10900677	0.81[CHB][hapmap];0.83[AMR][1000 genomes]
rs11241150	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs11241152	0.89[CHB][hapmap];0.83[AMR][1000 genomes]
rs11744112	0.87[EUR][1000 genomes]
rs12518824	0.90[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797319	0.89[CHB][hapmap];0.83[AMR][1000 genomes]
rs60369005	0.87[EUR][1000 genomes]
rs73227466	0.87[EUR][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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
2	chr5:111497800-111504400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:111497800-111505000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr5:111497800-111505000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr5:111498000-111504800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:111498000-111504800	Strong transcription	Fetal Thymus	thymus
7	chr5:111498000-111505600	Strong transcription	Fetal Muscle Leg	muscle
8	chr5:111498000-111505600	Strong transcription	Placenta	Placenta
9	chr5:111498200-111504800	Strong transcription	Fetal Intestine Large	intestine
10	chr5:111498200-111504800	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:111498200-111505000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr5:111498200-111505600	Strong transcription	Stomach Smooth Muscle	stomach
13	chr5:111498200-111518800	Weak transcription	Right Atrium	heart
14	chr5:111498400-111504800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:111498400-111504800	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:111498400-111506000	Strong transcription	Left Ventricle	heart
17	chr5:111498400-111506400	Strong transcription	Fetal Kidney	kidney
18	chr5:111498400-111506800	Strong transcription	Adipose Nuclei	Adipose
19	chr5:111498600-111504800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:111498600-111504800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:111498600-111504800	Strong transcription	Thymus	Thymus
22	chr5:111498600-111505000	Strong transcription	Primary B cells from cord blood	blood
23	chr5:111498600-111506600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:111498800-111504000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr5:111498800-111504000	Strong transcription	Fetal Stomach	stomach
26	chr5:111498800-111504400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:111498800-111504600	Strong transcription	Primary T cells from cord blood	blood
28	chr5:111498800-111504800	Strong transcription	Brain Hippocampus Middle	brain
29	chr5:111498800-111505000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr5:111498800-111506800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:111498800-111507600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:111499000-111505000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:111499000-111505000	Strong transcription	Fetal Lung	lung
34	chr5:111499200-111504400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:111499200-111504600	Strong transcription	Brain Cingulate Gyrus	brain
36	chr5:111499200-111504800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:111499200-111505800	Strong transcription	Fetal Brain Female	brain
38	chr5:111499600-111504200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:111499600-111504800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:111499600-111505000	Strong transcription	Esophagus	oesophagus
41	chr5:111499600-111507200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:111499600-111510800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:111499800-111504800	Strong transcription	HUVEC	blood vessel
44	chr5:111499800-111510600	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:111500000-111510600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:111500200-111504600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:111500200-111510600	Weak transcription	Brain Anterior Caudate	brain
48	chr5:111500400-111505000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:111500400-111510600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:111500600-111504800	Weak transcription	Colonic Mucosa	Colon

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