Variant report

Variant	rs2545734
Chromosome Location	chr5:98194618-98194619
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:98187570-98195533	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98194266..98195953-chr5:98224868..98226763,2	MCF-7	breast:

Variant related genes	Relation type
CHD1	TF binding region
ENSG00000222610	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs150935	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs152034	0.83[EUR][1000 genomes]
rs161734	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161736	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161737	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161738	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161739	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161744	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161745	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161746	0.83[EUR][1000 genomes]
rs161749	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs161750	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161940	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs161945	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161957	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2545733	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2545735	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2545736	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2545737	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2545738	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2545739	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2545740	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2578576	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2578577	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2617514	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs325199	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs325203	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs325204	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs325208	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325209	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs325214	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs326487	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs331927	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs331928	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs469519	0.83[EUR][1000 genomes];0.90[ASN][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	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2545734	RGMB	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98180200-98213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:98180800-98195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:98182400-98203600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:98182600-98197200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:98182600-98205000	Weak transcription	NHEK	skin
6	chr5:98183000-98201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:98185200-98203400	Weak transcription	Pancreas	Pancrea
8	chr5:98185600-98194800	Weak transcription	Fetal Kidney	kidney
9	chr5:98186200-98197200	Weak transcription	Fetal Intestine Small	intestine
10	chr5:98186200-98213400	Weak transcription	Esophagus	oesophagus
11	chr5:98186400-98200800	Weak transcription	Psoas Muscle	Psoas
12	chr5:98186600-98197200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:98188400-98247000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:98189200-98196800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:98189200-98205000	Weak transcription	NHLF	lung
16	chr5:98189400-98196200	Weak transcription	Primary T cells from cord blood	blood
17	chr5:98189400-98196800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:98189400-98197200	Weak transcription	Thymus	Thymus
19	chr5:98189400-98200000	Weak transcription	Left Ventricle	heart
20	chr5:98189400-98205800	Weak transcription	Fetal Heart	heart
21	chr5:98189400-98227400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:98189600-98213800	Weak transcription	HSMMtube	muscle
23	chr5:98189600-98215400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:98189600-98241000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:98189800-98196800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:98189800-98241000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr5:98189800-98241400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:98189800-98241400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:98189800-98241800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:98190000-98198400	Strong transcription	HUVEC	blood vessel
31	chr5:98190000-98203400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:98190000-98240600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:98190000-98240800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr5:98190000-98240800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:98190200-98203600	Weak transcription	Right Ventricle	heart
36	chr5:98190200-98204200	Weak transcription	Brain Substantia Nigra	brain
37	chr5:98190200-98240600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:98190200-98240600	Strong transcription	Liver	Liver
39	chr5:98190200-98241000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr5:98190400-98195800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:98190400-98197200	Weak transcription	Fetal Stomach	stomach
42	chr5:98190400-98197400	Weak transcription	Ovary	ovary
43	chr5:98190400-98199400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:98190400-98199800	Weak transcription	Colonic Mucosa	Colon
45	chr5:98190400-98200200	Weak transcription	Lung	lung
46	chr5:98190400-98200800	Weak transcription	Fetal Brain Female	brain
47	chr5:98190400-98203400	Weak transcription	Spleen	Spleen
48	chr5:98190400-98203600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr5:98190400-98203600	Weak transcription	Gastric	stomach
50	chr5:98190400-98205400	Weak transcription	Rectal Smooth Muscle	rectum

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