Variant report

Variant	rs55812441
Chromosome Location	chr5:111499270-111499271
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111008689..111010998-chr5:111497421..111499874,3	MCF-7	breast:
2	chr11:65657906..65658479-chr5:111498817..111499317,2	NB4	blood:
3	chr5:111100842..111103505-chr5:111497212..111499866,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17134155	0.81[EUR][1000 genomes]
rs17265886	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17266115	1.00[ASN][1000 genomes]
rs17266727	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17266771	0.87[ASN][1000 genomes]
rs1975014	0.87[ASN][1000 genomes]
rs2290990	0.91[EUR][1000 genomes]
rs2900060	0.86[EUR][1000 genomes]
rs56158171	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61482608	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787781	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787784	1.00[ASN][1000 genomes]
rs7449256	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700705	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711555	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713216	0.90[EUR][1000 genomes]
rs7720064	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720344	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730334	1.00[ASN][1000 genomes]
rs7730625	0.87[EUR][1000 genomes]
rs7731129	1.00[ASN][1000 genomes]
rs919243	0.87[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497400-111500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:111497600-111499600	Weak transcription	Esophagus	oesophagus
3	chr5:111497600-111499800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:111497600-111500400	Weak transcription	Stomach Mucosa	stomach
5	chr5:111497600-111501400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:111497600-111502000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:111497600-111502000	Weak transcription	Aorta	Aorta
8	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
9	chr5:111497800-111499400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr5:111497800-111499600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
11	chr5:111497800-111500000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:111497800-111504400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:111497800-111505000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr5:111497800-111505000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr5:111498000-111502600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:111498000-111503600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:111498000-111504800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:111498000-111504800	Strong transcription	Fetal Thymus	thymus
19	chr5:111498000-111505600	Strong transcription	Fetal Muscle Leg	muscle
20	chr5:111498000-111505600	Strong transcription	Placenta	Placenta
21	chr5:111498200-111499600	Weak transcription	Fetal Intestine Small	intestine
22	chr5:111498200-111499800	Genic enhancers	Fetal Heart	heart
23	chr5:111498200-111499800	Strong transcription	Rectal Smooth Muscle	rectum
24	chr5:111498200-111500200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:111498200-111500600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:111498200-111502200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:111498200-111502600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:111498200-111502800	Strong transcription	Ovary	ovary
29	chr5:111498200-111502800	Strong transcription	HSMM	muscle
30	chr5:111498200-111504800	Strong transcription	Fetal Intestine Large	intestine
31	chr5:111498200-111504800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:111498200-111505000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:111498200-111505600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr5:111498200-111518800	Weak transcription	Right Atrium	heart
35	chr5:111498400-111499400	Strong transcription	Fetal Brain Male	brain
36	chr5:111498400-111500200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:111498400-111500400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:111498400-111500600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:111498400-111500600	Strong transcription	Colonic Mucosa	Colon
40	chr5:111498400-111500600	Strong transcription	Gastric	stomach
41	chr5:111498400-111501000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:111498400-111501600	Strong transcription	NHDF-Ad	bronchial
43	chr5:111498400-111501800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr5:111498400-111502600	Strong transcription	HSMMtube	muscle
45	chr5:111498400-111502800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:111498400-111502800	Strong transcription	Brain Germinal Matrix	brain
47	chr5:111498400-111503600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:111498400-111504800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:111498400-111504800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:111498400-111506000	Strong transcription	Left Ventricle	heart

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