Variant report

Variant	rs17078485
Chromosome Location	chr3:46011986-46011987
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	chr3:46011530..46014566-chr3:46015264..46018457,3	K562	blood:
2	chr3:46011776..46015982-chr3:46034359..46039002,5	K562	blood:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11130081	0.92[AFR][1000 genomes]
rs17078471	0.92[AFR][1000 genomes]
rs7646474	0.89[AFR][1000 genomes]
rs9917821	0.82[AFR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr3:45980800-46013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
3	chr3:45983200-46012400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:45986400-46012200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:45986600-46012000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:45986800-46012200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr3:45987200-46013600	Strong transcription	Primary hematopoietic stem cells	blood
10	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:45987800-46012200	Strong transcription	HepG2	liver
13	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:45988000-46012000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:45988200-46012000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:45989400-46013800	Strong transcription	Dnd41	blood
20	chr3:45990600-46017200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr3:45991200-46012000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:45991200-46017400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr3:45992600-46013200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:45992600-46013600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:45993000-46013600	Strong transcription	Thymus	Thymus
26	chr3:45996200-46025400	Strong transcription	Liver	Liver
27	chr3:45999200-46012200	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr3:45999400-46012000	Strong transcription	Ovary	ovary
29	chr3:45999400-46018200	Strong transcription	Fetal Lung	lung
30	chr3:46000000-46029600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr3:46001000-46012200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:46002000-46014200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:46002200-46018600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:46002400-46012800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:46002600-46025000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:46002600-46027200	Weak transcription	A549	lung
37	chr3:46003200-46012200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:46003600-46014800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr3:46007400-46014000	Weak transcription	HUVEC	blood vessel
40	chr3:46007800-46012200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:46007800-46024200	Weak transcription	Fetal Kidney	kidney
42	chr3:46008000-46012000	Strong transcription	Primary T cells from cord blood	blood
43	chr3:46008000-46013000	Strong transcription	GM12878-XiMat	blood
44	chr3:46008400-46012800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:46008600-46013800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:46008600-46026400	Strong transcription	Hela-S3	cervix
47	chr3:46008800-46012600	Strong transcription	Adipose Nuclei	Adipose
48	chr3:46009000-46012400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:46009000-46013000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:46009000-46027800	Weak transcription	Fetal Brain Male	brain

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