Variant report

Variant	rs914700
Chromosome Location	chr10:45467703-45467704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45442718..45444232-chr10:45467688..45470115,2	MCF-7	breast:
2	chr10:45466696..45473467-chr10:45492241..45499604,15	K562	blood:

Variant related genes	Relation type
ENSG00000165512	Chromatin interaction
ENSG00000165511	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11818604	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11818623	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1888983	0.83[CEU][hapmap]
rs3740094	0.80[CHD][hapmap];0.83[ASN][1000 genomes]
rs3740097	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3740098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3758401	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs3758402	0.85[TSI][hapmap]
rs4245615	0.84[GIH][hapmap]
rs869156	0.84[CHB][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs882845	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883733	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs883734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs883735	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914701	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs914700	RASSF4	cis	multi-tissue	Pritchard
rs914700	RASSF4	Cis_1M	lymphoblastoid	RTeQTL
rs914700	RASSF4	cis	lymphoblastoid	seeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45460000-45470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:45460400-45469800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr10:45461200-45468200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:45461400-45468400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr10:45461400-45468600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr10:45461400-45468800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr10:45461600-45468400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:45461600-45468600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:45462000-45468400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:45462000-45469800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:45462200-45468600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr10:45462800-45468400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr10:45462800-45469600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:45463600-45468400	Strong transcription	Fetal Intestine Small	intestine
15	chr10:45464000-45468600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr10:45464200-45468600	Weak transcription	Stomach Mucosa	stomach
17	chr10:45464200-45469400	Weak transcription	NHDF-Ad	bronchial
18	chr10:45464200-45469800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:45464200-45469800	Weak transcription	Osteobl	bone
20	chr10:45464400-45467800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:45464400-45469800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr10:45464600-45468000	Strong transcription	HepG2	liver
23	chr10:45464600-45468200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:45464600-45468400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr10:45464600-45469000	Weak transcription	Small Intestine	intestine
26	chr10:45464600-45469200	Weak transcription	Fetal Lung	lung
27	chr10:45464600-45469400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr10:45464600-45469600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:45464600-45469600	Weak transcription	Fetal Brain Male	brain
30	chr10:45464600-45470000	Weak transcription	Fetal Kidney	kidney
31	chr10:45464600-45470000	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr10:45464800-45468000	Weak transcription	Fetal Heart	heart
33	chr10:45464800-45468200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr10:45464800-45468400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr10:45464800-45469400	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr10:45464800-45469800	Weak transcription	NHLF	lung
37	chr10:45464800-45470000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:45465000-45468400	Weak transcription	Primary B cells from cord blood	blood
39	chr10:45465000-45468600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:45465000-45468800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:45465000-45469200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr10:45465000-45469400	Weak transcription	Primary T cells from cord blood	blood
43	chr10:45465000-45469600	Weak transcription	Thymus	Thymus
44	chr10:45465000-45470200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr10:45465200-45467800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr10:45465200-45468000	Strong transcription	Colonic Mucosa	Colon
47	chr10:45465200-45468200	Weak transcription	Fetal Thymus	thymus
48	chr10:45465200-45468600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:45465200-45468600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr10:45465200-45468600	Weak transcription	Dnd41	blood

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