Variant report

Variant	rs11802390
Chromosome Location	chr1:85735018-85735019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85731843..85735394-chr1:85740314..85743094,4	MCF-7	breast:
2	chr1:85405508..85407651-chr1:85733535..85736514,2	K562	blood:
3	chr1:85730097..85732831-chr1:85733778..85736278,2	K562	blood:

Variant related genes	Relation type
ENSG00000223653	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11161614	1.00[YRI][hapmap]
rs11802530	1.00[AMR][1000 genomes]
rs11802673	1.00[AMR][1000 genomes]
rs11806417	1.00[AMR][1000 genomes]
rs11808537	1.00[AMR][1000 genomes]
rs11809702	1.00[AMR][1000 genomes]
rs11809826	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11809833	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11811123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12033170	1.00[YRI][hapmap]
rs12135333	1.00[YRI][hapmap]
rs17384381	1.00[YRI][hapmap]
rs233070	1.00[AMR][1000 genomes]
rs34609757	1.00[AMR][1000 genomes]
rs34799808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36069698	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85725400-85741000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:85725600-85737000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:85725800-85739400	Weak transcription	Aorta	Aorta
4	chr1:85726000-85741000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:85726000-85741400	Weak transcription	Gastric	stomach
6	chr1:85726200-85735200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:85726200-85739800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:85727200-85741400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:85727800-85737400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr1:85728000-85737400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:85728200-85739400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:85728400-85738400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:85728600-85738800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:85728600-85739600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr1:85728600-85739600	Strong transcription	HSMM	muscle
16	chr1:85728800-85739000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:85728800-85739000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:85728800-85739600	Strong transcription	Primary hematopoietic stem cells	blood
19	chr1:85729000-85735200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:85729000-85739200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:85729200-85737800	Strong transcription	Placenta	Placenta
22	chr1:85729200-85738000	Strong transcription	Fetal Thymus	thymus
23	chr1:85729200-85738400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:85729200-85738800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr1:85729200-85739400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:85729200-85739600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:85729400-85738000	Strong transcription	Primary B cells from cord blood	blood
28	chr1:85729400-85739200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:85729600-85737000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:85729600-85739000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:85729800-85739200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:85729800-85739400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:85730000-85737600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:85730000-85739000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:85730000-85739000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:85730000-85739200	Strong transcription	HMEC	breast
37	chr1:85730200-85739200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:85730400-85739600	Weak transcription	Stomach Mucosa	stomach
39	chr1:85730600-85739200	Strong transcription	NH-A	brain
40	chr1:85730800-85735200	Weak transcription	Psoas Muscle	Psoas
41	chr1:85730800-85739000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:85731000-85739200	Strong transcription	Hela-S3	cervix
43	chr1:85731200-85736800	Strong transcription	Adipose Nuclei	Adipose
44	chr1:85731200-85738600	Strong transcription	Osteobl	bone
45	chr1:85731200-85738800	Strong transcription	NHDF-Ad	bronchial
46	chr1:85731400-85735200	Strong transcription	Fetal Lung	lung
47	chr1:85731400-85738400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:85731600-85737000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:85731600-85737200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:85731600-85737200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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