Variant report

Variant	rs2228065
Chromosome Location	chr10:45920506-45920507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12243845	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12244834	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12255138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12265175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12266963	0.92[AFR][1000 genomes]
rs12267314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12267385	0.82[ASN][1000 genomes]
rs41365544	0.94[ASN][1000 genomes]
rs4986834	1.00[AMR][1000 genomes]
rs71494783	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv895110	chr10:45912771-45953767	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2228065	RASSF4	cis	lymphoblastoid	seeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45915600-45923200	Enhancers	Fetal Thymus	thymus
2	chr10:45916400-45920600	Weak transcription	HUVEC	blood vessel
3	chr10:45916400-45921400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:45916600-45921000	Weak transcription	Stomach Mucosa	stomach
5	chr10:45916600-45921600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:45916600-45921800	Weak transcription	Brain Angular Gyrus	brain
7	chr10:45916600-45922200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr10:45916600-45922200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:45916600-45923000	Weak transcription	Right Ventricle	heart
10	chr10:45916600-45924400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:45916600-45949200	Weak transcription	Gastric	stomach
12	chr10:45916800-45921200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:45916800-45921200	Weak transcription	Hela-S3	cervix
14	chr10:45916800-45921400	Weak transcription	Brain Substantia Nigra	brain
15	chr10:45916800-45923000	Weak transcription	Fetal Intestine Small	intestine
16	chr10:45917000-45921400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr10:45917000-45923000	Weak transcription	Right Atrium	heart
18	chr10:45917200-45921400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:45917200-45921400	Genic enhancers	Monocytes-CD14+_RO01746	blood
20	chr10:45917200-45922000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:45917200-45923400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr10:45917400-45921200	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:45917400-45921600	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr10:45917400-45921600	Weak transcription	Brain Anterior Caudate	brain
25	chr10:45917600-45924400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr10:45917800-45921200	Weak transcription	Colonic Mucosa	Colon
27	chr10:45917800-45922800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:45918000-45923800	Weak transcription	GM12878-XiMat	blood
29	chr10:45918600-45921000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:45918600-45925800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:45918600-45929200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr10:45918800-45921200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr10:45918800-45921200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr10:45919000-45921200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr10:45919200-45921000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr10:45919200-45921200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr10:45919200-45921200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr10:45919400-45920800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr10:45919800-45920800	Enhancers	Placenta	Placenta
40	chr10:45920000-45920600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr10:45920000-45921200	Genic enhancers	Spleen	Spleen
42	chr10:45920000-45921600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr10:45920000-45921800	Enhancers	Duodenum Mucosa	Duodenum
44	chr10:45920000-45922000	Enhancers	Primary hematopoietic stem cells	blood
45	chr10:45920000-45922000	Enhancers	Thymus	Thymus
46	chr10:45920000-45923000	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr10:45920000-45925800	Enhancers	Pancreas	Pancrea
48	chr10:45920200-45921200	Enhancers	Lung	lung
49	chr10:45920200-45921400	Enhancers	Adipose Nuclei	Adipose
50	chr10:45920200-45921800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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