Variant report

Variant	rs4677811
Chromosome Location	chr3:194862644-194862645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194845075..194847856-chr3:194862075..194863679,2	K562	blood:
2	chr3:194862609..194865401-chr3:194875415..194878786,3	K562	blood:
3	chr3:194850288..194852181-chr3:194862414..194864990,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10433328	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10433329	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10433330	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933700	0.98[ASN][1000 genomes]
rs10933701	0.85[AMR][1000 genomes]
rs12491661	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12491663	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2004553	0.88[ASN][1000 genomes]
rs2088040	0.93[ASN][1000 genomes]
rs2088041	0.93[ASN][1000 genomes]
rs2410844	0.93[ASN][1000 genomes]
rs2410846	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28613110	0.93[ASN][1000 genomes]
rs4677662	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4677814	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59556963	0.93[ASN][1000 genomes]
rs60528401	0.98[ASN][1000 genomes]
rs6437460	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6799346	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73206646	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73206648	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73206650	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73206651	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628775	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7632126	0.81[EUR][1000 genomes]
rs7637593	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7653355	0.98[ASN][1000 genomes]
rs903309	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs903311	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9809570	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9818897	0.84[AFR][1000 genomes]
rs9825521	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
12	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
15	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194841000-194872800	Weak transcription	HSMMtube	muscle
2	chr3:194841400-194868800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:194846600-194868400	Weak transcription	HepG2	liver
4	chr3:194847200-194868200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr3:194852400-194868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:194854600-194865800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:194854600-194866200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:194854600-194868400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:194854600-194868600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:194854600-194871000	Weak transcription	Fetal Brain Female	brain
11	chr3:194854800-194868400	Weak transcription	NHLF	lung
12	chr3:194855200-194862800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:194855400-194868800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:194858000-194866000	Enhancers	Placenta	Placenta
15	chr3:194858600-194866800	Weak transcription	Gastric	stomach
16	chr3:194858800-194865400	Weak transcription	Fetal Stomach	stomach
17	chr3:194860400-194863200	Enhancers	HUVEC	blood vessel
18	chr3:194860400-194868200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:194860400-194868400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr3:194860600-194868400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:194860800-194866800	Weak transcription	Right Atrium	heart
22	chr3:194860800-194870200	Weak transcription	Right Ventricle	heart
23	chr3:194861000-194881000	Weak transcription	Hela-S3	cervix
24	chr3:194861200-194863000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:194861200-194872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:194861400-194862800	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr3:194861400-194862800	Strong transcription	Primary T cells from cord blood	blood
28	chr3:194861600-194870800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:194861800-194863400	Weak transcription	Ovary	ovary
30	chr3:194861800-194865000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:194861800-194868200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:194861800-194868200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:194861800-194868200	Weak transcription	Adipose Nuclei	Adipose
34	chr3:194861800-194869000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:194861800-194870800	Weak transcription	Aorta	Aorta
36	chr3:194861800-194871000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:194861800-194871200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:194861800-194872800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:194861800-194875000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:194862000-194864000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:194862000-194865000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr3:194862200-194863000	Enhancers	Brain Substantia Nigra	brain
43	chr3:194862200-194863000	Enhancers	Esophagus	oesophagus
44	chr3:194862200-194866200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:194862200-194867200	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:194862200-194868600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:194862200-194869200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:194862400-194862800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:194862400-194863000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:194862400-194864200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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