Variant report

Variant	rs6807493
Chromosome Location	chr3:150445022-150445023
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150320702..150322501-chr3:150444279..150446562,4	K562	blood:
2	chr3:150442966..150446319-chr3:150451835..150458890,10	K562	blood:
3	chr3:150443338..150445788-chr3:150529730..150532327,2	K562	blood:
4	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
5	chr3:150443352..150449244-chr3:150477462..150483925,16	K562	blood:
6	chr3:150443385..150447273-chr3:150447378..150454336,8	K562	blood:
7	chr3:150442966..150445633-chr3:150456392..150458239,2	K562	blood:
8	chr3:150441775..150449355-chr3:150477239..150485487,18	K562	blood:
9	chr3:150437541..150441033-chr3:150442192..150446302,5	K562	blood:
10	chr3:150437792..150441033-chr3:150441537..150446048,5	K562	blood:
11	chr3:150319356..150322439-chr3:150444279..150447274,5	K562	blood:
12	chr3:150442212..150446114-chr3:150585527..150588995,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198843	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000244668	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000181788	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1131685	0.87[ASN][1000 genomes]
rs12634699	0.81[ASN][1000 genomes]
rs12638096	0.81[ASN][1000 genomes]
rs13063408	0.84[ASN][1000 genomes]
rs13065451	0.81[ASN][1000 genomes]
rs13074103	0.87[ASN][1000 genomes]
rs13074670	0.87[ASN][1000 genomes]
rs13079739	0.85[ASN][1000 genomes]
rs13079755	0.87[ASN][1000 genomes]
rs13085974	0.92[ASN][1000 genomes]
rs13086267	0.91[ASN][1000 genomes]
rs13086869	0.86[ASN][1000 genomes]
rs13090897	0.87[ASN][1000 genomes]
rs16862794	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17281287	0.86[ASN][1000 genomes]
rs1897494	0.87[ASN][1000 genomes]
rs56725170	0.80[AMR][1000 genomes]
rs57680627	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59885616	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73869279	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641475	0.82[ASN][1000 genomes]
rs9869495	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150423200-150451600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:150429200-150457600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:150430000-150455000	Weak transcription	Primary T cells from cord blood	blood
4	chr3:150430800-150454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:150439400-150446800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:150439800-150445600	Weak transcription	Gastric	stomach
7	chr3:150439800-150457600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:150439800-150459000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:150441400-150446400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:150441800-150445800	Weak transcription	Right Atrium	heart
11	chr3:150442200-150455200	Weak transcription	Thymus	Thymus
12	chr3:150442400-150448000	Enhancers	HepG2	liver
13	chr3:150442600-150446200	Enhancers	Placenta	Placenta
14	chr3:150443000-150445600	Enhancers	K562	blood
15	chr3:150443200-150445600	Enhancers	Esophagus	oesophagus
16	chr3:150443200-150457800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:150443600-150445600	Weak transcription	HMEC	breast
18	chr3:150443600-150451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:150443800-150454200	Weak transcription	Fetal Intestine Large	intestine
20	chr3:150444000-150445600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:150444000-150445800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:150444000-150446200	Weak transcription	Fetal Intestine Small	intestine
23	chr3:150444000-150457600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:150444400-150446200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:150444600-150446200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:150444800-150445200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:150444800-150445200	Weak transcription	NHEK	skin
28	chr3:150444800-150445600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:150444800-150445600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:150444800-150446000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:150444800-150446000	Enhancers	Adipose Nuclei	Adipose
32	chr3:150444800-150446200	Enhancers	Brain Cingulate Gyrus	brain
33	chr3:150445000-150445600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:150445000-150445600	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:150445000-150445800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:150445000-150446000	Enhancers	Brain Substantia Nigra	brain
37	chr3:150445000-150446400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr3:150445000-150455000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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