Variant report

Variant	rs6772271
Chromosome Location	chr3:196193763-196193764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:196192358..196194279-chr3:196199089..196201491,2	K562	blood:
2	chr3:196192779..196196308-chr3:196197005..196200589,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11185542	0.80[EUR][1000 genomes]
rs11185543	0.83[ASN][1000 genomes]
rs11707744	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11718980	0.83[ASN][1000 genomes]
rs11719920	0.85[ASN][1000 genomes]
rs12632592	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12635457	0.88[ASN][1000 genomes]
rs13084212	0.83[ASN][1000 genomes]
rs13094241	0.81[EUR][1000 genomes]
rs13098146	0.85[ASN][1000 genomes]
rs34196595	0.86[ASN][1000 genomes]
rs3796129	0.85[ASN][1000 genomes]
rs4244200	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4393941	0.85[ASN][1000 genomes]
rs4916431	0.85[ASN][1000 genomes]
rs4916497	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4916498	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4916499	0.85[ASN][1000 genomes]
rs5016648	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55997345	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6775484	0.85[ASN][1000 genomes]
rs6803161	0.88[ASN][1000 genomes]
rs71630192	0.83[ASN][1000 genomes]
rs7433483	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7611980	0.83[ASN][1000 genomes]
rs7612450	0.83[ASN][1000 genomes]
rs7643192	0.83[ASN][1000 genomes]
rs7646174	0.83[ASN][1000 genomes]
rs7646273	0.83[ASN][1000 genomes]
rs7647487	0.85[ASN][1000 genomes]
rs7648887	0.83[CEU][hapmap]
rs9843876	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9856006	0.92[EUR][1000 genomes]
rs9864836	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9872866	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	55 gene(s)	inside rSNPs	diseases
8	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
10	nsv878185	chr3:196158773-196199204	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv878186	chr3:196158773-196219794	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv3349428	chr3:196168691-196197042	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6772271	FBXO45	Cis_1M	lymphoblastoid	RTeQTL
rs6772271	UBXD7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196168400-196194200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:196170800-196196000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:196171000-196198400	Weak transcription	Fetal Brain Female	brain
4	chr3:196171400-196198600	Weak transcription	Ovary	ovary
5	chr3:196171800-196197600	Weak transcription	Brain Anterior Caudate	brain
6	chr3:196171800-196198200	Weak transcription	NHDF-Ad	bronchial
7	chr3:196172200-196198200	Weak transcription	Aorta	Aorta
8	chr3:196173000-196198600	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:196173200-196198200	Weak transcription	Brain Angular Gyrus	brain
10	chr3:196174800-196195200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:196174800-196198200	Weak transcription	Right Ventricle	heart
12	chr3:196175200-196198200	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:196175200-196198400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:196177000-196198400	Weak transcription	Pancreas	Pancrea
15	chr3:196177200-196198200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:196177400-196195400	Weak transcription	Liver	Liver
17	chr3:196177800-196198200	Weak transcription	Gastric	stomach
18	chr3:196177800-196198600	Weak transcription	Small Intestine	intestine
19	chr3:196178200-196195800	Weak transcription	Dnd41	blood
20	chr3:196178200-196197400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:196178200-196197600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:196178200-196198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:196178200-196198400	Weak transcription	Brain Germinal Matrix	brain
24	chr3:196178200-196198600	Weak transcription	Psoas Muscle	Psoas
25	chr3:196180000-196194000	Weak transcription	Fetal Thymus	thymus
26	chr3:196180400-196194200	Weak transcription	Primary B cells from cord blood	blood
27	chr3:196180400-196197400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:196180600-196197400	Weak transcription	Adipose Nuclei	Adipose
29	chr3:196180600-196198400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:196182200-196194200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:196182200-196197600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr3:196182200-196198000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr3:196182200-196198200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:196182200-196213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:196182400-196198000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:196182600-196198400	Weak transcription	Left Ventricle	heart
37	chr3:196182800-196197400	Weak transcription	Primary T cells from cord blood	blood
38	chr3:196183000-196197600	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:196183000-196198400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:196184600-196194600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:196184600-196198200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:196184800-196194600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:196185000-196194200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr3:196185000-196194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:196185000-196196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:196185000-196198200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr3:196185200-196194400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:196185200-196195000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:196185200-196195400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:196185200-196196200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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