Variant report

Variant	rs327786
Chromosome Location	chr5:98214005-98214006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98209517..98211780-chr5:98213519..98217024,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs109843	0.92[CEU][hapmap];0.84[JPT][hapmap]
rs161937	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs161949	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs326488	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs331547	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs331917	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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
rs327786	RGMB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98188400-98247000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:98189400-98227400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:98189600-98215400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:98189600-98241000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:98189800-98241000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:98189800-98241400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:98189800-98241400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:98189800-98241800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:98190000-98240600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:98190000-98240800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr5:98190000-98240800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:98190200-98240600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:98190200-98240600	Strong transcription	Liver	Liver
14	chr5:98190200-98241000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:98190400-98214600	Weak transcription	Aorta	Aorta
16	chr5:98190400-98224200	Strong transcription	Placenta	Placenta
17	chr5:98190400-98234600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:98190400-98238200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:98190400-98238800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:98190400-98240000	Weak transcription	Stomach Mucosa	stomach
21	chr5:98190400-98240400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr5:98190400-98240600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr5:98190400-98240800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:98190400-98241200	Strong transcription	Fetal Thymus	thymus
25	chr5:98190400-98243800	Strong transcription	Dnd41	blood
26	chr5:98190600-98240600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:98190600-98240800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:98190600-98240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:98190600-98241000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:98190800-98216200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:98190800-98226000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:98190800-98240000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr5:98191000-98225600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:98191000-98240800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:98192200-98214600	Weak transcription	Brain Angular Gyrus	brain
36	chr5:98193600-98219000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:98195200-98240800	Strong transcription	Primary B cells from cord blood	blood
38	chr5:98196000-98226800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:98196200-98234000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:98198000-98218600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:98198000-98219000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:98198000-98219200	Strong transcription	Hela-S3	cervix
43	chr5:98198400-98240800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:98198800-98224000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:98199800-98215200	Strong transcription	HMEC	breast
46	chr5:98199800-98219200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:98200000-98263000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:98200200-98240400	Strong transcription	HSMM	muscle
49	chr5:98200600-98240800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr5:98200800-98215400	Strong transcription	HepG2	liver

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