Variant report

Variant	rs4698806
Chromosome Location	chr4:110971489-110971490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110970906..110974111-chr4:111117676..111120910,5	MCF-7	breast:
2	chr4:110970036..110972230-chr4:111118255..111121131,3	MCF-7	breast:
3	chr4:110971182..110971957-chr4:111132272..111132881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170522	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10001138	0.89[GIH][hapmap]
rs1557803	0.91[ASW][hapmap];0.83[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4141123	0.91[ASW][hapmap];0.83[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6837303	0.83[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9990430	0.89[EUR][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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv595145	chr4:110969572-110982248	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4698806	CYP2U1	cis	parietal	SCAN
rs4698806	RRH	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110963400-110972600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:110963400-110976200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:110963800-110974600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:110964600-110972000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:110964600-110972000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:110964600-110972000	Weak transcription	HSMM	muscle
7	chr4:110964600-110972200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:110964600-110975200	Weak transcription	Fetal Heart	heart
9	chr4:110964600-110976600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:110964600-110976600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:110964600-110981000	Weak transcription	Adipose Nuclei	Adipose
12	chr4:110964600-110981800	Weak transcription	Brain Anterior Caudate	brain
13	chr4:110964600-111004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:110964800-110976400	Weak transcription	Fetal Kidney	kidney
15	chr4:110964800-110982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:110965000-110972200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:110965000-110974200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:110965000-110982000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:110965200-110976600	Weak transcription	HSMMtube	muscle
20	chr4:110965200-110986600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:110965400-110994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:110965600-110971600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:110966000-110972600	Weak transcription	NHEK	skin
24	chr4:110966600-110972200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:110966600-110972400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:110966800-110974000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:110966800-110982000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:110967600-110980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:110967800-110976600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:110968000-110972000	Weak transcription	NH-A	brain
31	chr4:110968000-110976600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:110968200-110972000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:110968200-110972200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:110968200-110972600	Weak transcription	Fetal Brain Female	brain
35	chr4:110968200-110974000	Weak transcription	Fetal Lung	lung
36	chr4:110968200-110976200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:110968200-110976400	Weak transcription	Brain Substantia Nigra	brain
38	chr4:110968200-110976600	Weak transcription	NHDF-Ad	bronchial
39	chr4:110968600-110972200	Weak transcription	HMEC	breast
40	chr4:110968600-110972400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:110968600-110976600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:110968600-110980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:110969200-110972600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:110969400-110974800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:110969400-110975800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:110969600-110972000	Enhancers	Brain Germinal Matrix	brain
47	chr4:110969600-110972400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:110969600-110973400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:110970000-110976600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:110970200-110971600	Enhancers	Brain Cingulate Gyrus	brain

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