Variant report

Variant	rs331552
Chromosome Location	chr5:98118718-98118719
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	chr5:98117951..98120530-chr5:98132324..98136136,3	MCF-7	breast:
2	chr5:98118498..98120988-chr5:98126962..98129374,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1002859	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs1002952	0.97[ASN][1000 genomes]
rs1508792	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1508793	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1818348	0.82[ASN][1000 genomes]
rs1828169	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs1911904	0.85[CHB][hapmap]
rs1979980	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2249797	0.82[ASN][1000 genomes]
rs2250807	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs2545673	0.85[CHB][hapmap]
rs2545676	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2545732	0.83[ASN][1000 genomes]
rs2547973	0.83[ASN][1000 genomes]
rs2662258	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2662264	0.85[CHB][hapmap]
rs331550	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331551	0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs970079	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs331552	RGMB	Cis_1M	lymphoblastoid	RTeQTL
rs331552	RGMB	cis	normal skin	skin_eQTL
rs331552	RGMB	cis	multi-tissue	Pritchard
rs331552	RGMB	cis	uninvolved skin	skin_eQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98109600-98119200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:98110200-98125200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
3	chr5:98110400-98119200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:98110800-98123200	Weak transcription	Aorta	Aorta
5	chr5:98111000-98128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:98111000-98131800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:98111600-98131800	Weak transcription	Placenta	Placenta
8	chr5:98111800-98119000	Weak transcription	Spleen	Spleen
9	chr5:98111800-98120200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:98112000-98135800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:98112200-98118800	Weak transcription	Brain Angular Gyrus	brain
12	chr5:98112400-98120400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:98112400-98121600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:98112400-98122400	Weak transcription	Fetal Heart	heart
15	chr5:98113200-98120000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:98113400-98120000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:98113400-98120800	Weak transcription	Fetal Brain Male	brain
18	chr5:98114000-98120200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:98114600-98119800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:98114600-98120800	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr5:98114800-98131400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:98115000-98118800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:98115000-98122200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:98115000-98125400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:98115200-98119000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr5:98115200-98119200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:98115200-98119800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:98115200-98120200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:98115200-98120200	Strong transcription	HSMMtube	muscle
30	chr5:98115200-98120600	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:98115600-98119800	Weak transcription	Colonic Mucosa	Colon
32	chr5:98115600-98119800	Strong transcription	NH-A	brain
33	chr5:98115600-98121200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:98115600-98121400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr5:98115600-98123200	Weak transcription	Primary T cells from cord blood	blood
36	chr5:98115800-98119200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:98115800-98120400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:98115800-98123200	Weak transcription	Right Atrium	heart
39	chr5:98115800-98123800	Genic enhancers	NHEK	skin
40	chr5:98116000-98120600	Strong transcription	HUVEC	blood vessel
41	chr5:98116200-98122000	Weak transcription	Primary B cells from cord blood	blood
42	chr5:98116400-98119600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:98116400-98119800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr5:98116400-98120200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:98116600-98118800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:98116600-98119000	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:98116600-98119000	Weak transcription	Left Ventricle	heart
48	chr5:98116600-98120400	Weak transcription	Fetal Kidney	kidney
49	chr5:98116600-98120800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:98116600-98125200	Genic enhancers	Osteobl	bone

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