Variant report

Variant	rs4683587
Chromosome Location	chr3:140963333-140963334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140962275..140965128-chr3:140970545..140973245,4	K562	blood:
2	chr3:140949314..140952650-chr3:140959989..140963598,3	MCF-7	breast:
3	chr3:140946320..140947865-chr3:140962146..140964604,2	K562	blood:

Variant related genes	Relation type
ENSG00000155893	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11556022	1.00[JPT][hapmap]
rs11710222	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs11713257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.84[ASN][1000 genomes]
rs16851191	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16851272	0.84[CEU][hapmap]
rs2292401	0.81[EUR][1000 genomes]
rs2292402	0.82[EUR][1000 genomes]
rs4683589	0.81[ASN][1000 genomes]
rs55694384	0.81[ASN][1000 genomes]
rs55923220	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56163421	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254804	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57562453	0.81[ASN][1000 genomes]
rs6439986	0.84[EUR][1000 genomes]
rs6439987	0.84[EUR][1000 genomes]
rs6439989	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[EUR][1000 genomes]
rs6762331	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794495	1.00[JPT][hapmap]
rs72994962	0.84[ASN][1000 genomes]
rs72994967	0.84[ASN][1000 genomes]
rs73869537	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618821	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7629005	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7636976	0.82[EUR][1000 genomes]
rs9682606	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][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	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140951600-140979000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:140955200-140980600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:140955400-140968400	Genic enhancers	Dnd41	blood
4	chr3:140955400-140985800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:140957400-140967800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:140957400-140967800	Weak transcription	Gastric	stomach
7	chr3:140957400-141001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:140957800-140973600	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:140959200-140966200	Enhancers	Fetal Heart	heart
10	chr3:140959200-140998400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:140959400-140964800	Weak transcription	Pancreas	Pancrea
12	chr3:140959400-140965200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:140959800-140964400	Weak transcription	HepG2	liver
14	chr3:140960000-140980000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:140960800-140969800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:140961000-140978800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:140961200-140963800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr3:140961200-140973600	Weak transcription	Brain Angular Gyrus	brain
19	chr3:140961200-140985800	Weak transcription	Adipose Nuclei	Adipose
20	chr3:140961200-141012600	Weak transcription	Aorta	Aorta
21	chr3:140961400-140967800	Weak transcription	Esophagus	oesophagus
22	chr3:140961400-140969400	Weak transcription	HSMMtube	muscle
23	chr3:140961400-140974200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:140961400-140974200	Weak transcription	Brain Substantia Nigra	brain
25	chr3:140961400-140974400	Weak transcription	Placenta	Placenta
26	chr3:140961400-140983200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:140961600-140971400	Weak transcription	Fetal Brain Female	brain
28	chr3:140962000-140964400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:140962000-140985800	Weak transcription	Brain Anterior Caudate	brain
30	chr3:140962200-140964200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:140962200-140964600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:140962200-140974200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:140962400-140963600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr3:140962400-140964800	Weak transcription	Psoas Muscle	Psoas
35	chr3:140962400-140977000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:140962400-140979200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:140962600-140963400	Weak transcription	Fetal Thymus	thymus
38	chr3:140962600-140964000	Weak transcription	Thymus	Thymus
39	chr3:140962600-140964400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:140962600-140964800	Weak transcription	Left Ventricle	heart
41	chr3:140962600-140965000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:140962600-140965000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:140962600-140965000	Weak transcription	Fetal Muscle Leg	muscle
44	chr3:140962600-140965200	Weak transcription	Lung	lung
45	chr3:140962600-140967800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:140962600-140967800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr3:140962600-140967800	Weak transcription	Fetal Brain Male	brain
48	chr3:140962600-140969200	Weak transcription	Fetal Stomach	stomach
49	chr3:140962600-140969800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:140962600-140971600	Weak transcription	Fetal Muscle Trunk	muscle

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