Variant report

Variant	rs9327919
Chromosome Location	chr5:98270725-98270726
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	chr5:98269258..98271296-chr5:98288726..98290603,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-1	chr5:98270246-98271477	NONHSAT102972

Variant related genes	Relation type
ENSG00000241597	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10056716	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10057320	0.84[ASW][hapmap];0.90[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28557210	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6872073	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6881656	0.83[GIH][hapmap];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv537818	chr5:98241627-98279192	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv537819	chr5:98253348-98299646	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98266000-98271000	Weak transcription	Left Ventricle	heart
2	chr5:98266000-98272400	Weak transcription	Aorta	Aorta
3	chr5:98266000-98276400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:98266000-98276400	Weak transcription	Placenta	Placenta
5	chr5:98266200-98272600	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:98266200-98273200	Weak transcription	Right Ventricle	heart
7	chr5:98266200-98274200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:98266200-98283600	Weak transcription	Colonic Mucosa	Colon
9	chr5:98266400-98270800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:98266400-98271000	Weak transcription	Psoas Muscle	Psoas
11	chr5:98266400-98271200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr5:98266400-98271400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:98266400-98271400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:98266400-98272400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:98266400-98272600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:98266400-98273000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:98266400-98273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:98266400-98273400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:98266400-98276200	Weak transcription	Fetal Kidney	kidney
20	chr5:98266600-98272000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:98266600-98273400	Weak transcription	NHDF-Ad	bronchial
22	chr5:98266600-98291400	Weak transcription	Brain Germinal Matrix	brain
23	chr5:98266800-98273200	Weak transcription	HUVEC	blood vessel
24	chr5:98266800-98274000	Weak transcription	Fetal Lung	lung
25	chr5:98266800-98277000	Weak transcription	HMEC	breast
26	chr5:98266800-98278400	Weak transcription	Hela-S3	cervix
27	chr5:98266800-98283200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:98267000-98274000	Weak transcription	Adipose Nuclei	Adipose
29	chr5:98267200-98270800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:98267200-98272400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:98267400-98271000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:98267400-98271400	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:98267400-98272600	Weak transcription	Fetal Intestine Small	intestine
34	chr5:98267400-98277800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:98268200-98271000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:98268600-98271000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:98268600-98271000	Enhancers	Brain Substantia Nigra	brain
38	chr5:98268600-98271400	Enhancers	Brain Anterior Caudate	brain
39	chr5:98268600-98271400	Enhancers	Brain Cingulate Gyrus	brain
40	chr5:98268800-98270800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr5:98269000-98271400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:98269200-98271000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr5:98269400-98270800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:98269400-98273400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr5:98269600-98270800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:98269600-98271200	Weak transcription	Pancreas	Pancrea
47	chr5:98269600-98271400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr5:98269600-98271400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:98269600-98272000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr5:98269600-98272400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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