Variant report

Variant	rs6806124
Chromosome Location	chr3:51693576-51693577
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51692768..51695628-chr3:51701276..51703775,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13316894	1.00[AMR][1000 genomes]
rs13317936	1.00[AMR][1000 genomes]
rs13321111	1.00[AMR][1000 genomes]
rs13321674	1.00[MEX][hapmap]
rs13322621	1.00[AMR][1000 genomes]
rs13325153	1.00[MEX][hapmap]
rs13327225	1.00[MEX][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs17051799	1.00[MEX][hapmap]
rs17051832	1.00[MEX][hapmap]
rs17081501	1.00[MEX][hapmap]
rs28454463	1.00[AMR][1000 genomes]
rs28626048	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6777506	1.00[AMR][1000 genomes]
rs6779163	1.00[AMR][1000 genomes]
rs6792143	1.00[MEX][hapmap]
rs7627636	1.00[YRI][hapmap]
rs7635546	1.00[AMR][1000 genomes]
rs9809757	1.00[MEX][hapmap]
rs9812682	1.00[AMR][1000 genomes]
rs9815475	1.00[MEX][hapmap]
rs9824779	1.00[MEX][hapmap]
rs9826415	1.00[AMR][1000 genomes]
rs9828325	1.00[AMR][1000 genomes]
rs9829002	1.00[AMR][1000 genomes]
rs9841963	1.00[AMR][1000 genomes]
rs9842066	1.00[MEX][hapmap]
rs9846343	1.00[AMR][1000 genomes]
rs9853900	1.00[AMR][1000 genomes]
rs9855214	1.00[AMR][1000 genomes]
rs9868612	1.00[AMR][1000 genomes]
rs9875513	1.00[AMR][1000 genomes]
rs9878053	1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9878564	1.00[MEX][hapmap]
rs9880050	1.00[MEX][hapmap]
rs9880909	1.00[MEX][hapmap]

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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv999553	chr3:51584056-51696052	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51680000-51696000	Weak transcription	A549	lung
2	chr3:51680800-51702800	Weak transcription	K562	blood
3	chr3:51681000-51697000	Weak transcription	Stomach Mucosa	stomach
4	chr3:51681200-51693800	Weak transcription	NHDF-Ad	bronchial
5	chr3:51681600-51703200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:51682200-51704400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:51682400-51693600	Weak transcription	Fetal Kidney	kidney
8	chr3:51682400-51696200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:51682400-51696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:51682400-51696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:51682600-51702800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:51682800-51693600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:51683000-51693600	Weak transcription	Fetal Lung	lung
14	chr3:51687800-51698000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:51687800-51698600	Strong transcription	Primary T cells from cord blood	blood
16	chr3:51687800-51699400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:51687800-51700000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:51687800-51700200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:51688000-51694200	Strong transcription	HSMMtube	muscle
20	chr3:51688000-51694400	Strong transcription	Osteobl	bone
21	chr3:51688000-51695400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:51688000-51697400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:51688000-51698200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:51688000-51701000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:51688000-51701800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:51688000-51702200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:51688000-51702400	Strong transcription	Fetal Stomach	stomach
28	chr3:51688200-51694600	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:51688200-51700000	Strong transcription	Placenta	Placenta
30	chr3:51688400-51694400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:51688400-51694400	Strong transcription	Left Ventricle	heart
32	chr3:51688400-51698400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:51688600-51695400	Strong transcription	Fetal Intestine Small	intestine
34	chr3:51688600-51697800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr3:51688600-51698000	Strong transcription	Thymus	Thymus
36	chr3:51688600-51698400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:51688600-51698400	Strong transcription	Adipose Nuclei	Adipose
38	chr3:51688600-51700000	Strong transcription	Fetal Intestine Large	intestine
39	chr3:51688600-51700200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr3:51688600-51701200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:51688800-51694200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:51688800-51694400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:51688800-51698000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr3:51688800-51700200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:51688800-51700600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr3:51689000-51695400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:51689000-51695400	Strong transcription	Lung	lung
48	chr3:51689000-51696600	Weak transcription	Right Ventricle	heart
49	chr3:51689000-51697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:51689000-51697600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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