Variant report

Variant	rs6439986
Chromosome Location	chr3:140959301-140959302
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140954329..140957093-chr3:140957221..140960303,3	K562	blood:
2	chr3:140958319..140960970-chr3:140982966..140985127,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11710222	0.84[EUR][1000 genomes]
rs11712552	0.89[ASN][1000 genomes]
rs16851151	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16851191	0.84[EUR][1000 genomes]
rs2012610	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2292400	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292401	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292402	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4683587	0.84[EUR][1000 genomes]
rs55923220	0.82[EUR][1000 genomes]
rs56163421	0.84[EUR][1000 genomes]
rs56254804	0.84[EUR][1000 genomes]
rs56273864	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58903469	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6439982	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6439983	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6439987	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439989	0.84[EUR][1000 genomes]
rs6762331	0.84[EUR][1000 genomes]
rs73869537	0.84[EUR][1000 genomes]
rs7618821	0.84[EUR][1000 genomes]
rs7629005	0.83[EUR][1000 genomes]
rs7636976	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs971799	0.85[EUR][1000 genomes]

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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140951600-140979000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:140951800-140960200	Weak transcription	Esophagus	oesophagus
3	chr3:140951800-140960400	Weak transcription	Brain Substantia Nigra	brain
4	chr3:140951800-140962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:140951800-140962200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:140952000-140959600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:140952000-140962000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:140952400-140959600	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:140953600-140959600	Genic enhancers	Fetal Thymus	thymus
10	chr3:140953600-140960200	Weak transcription	Spleen	Spleen
11	chr3:140955000-140959400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:140955000-140959600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:140955000-140960200	Weak transcription	Adipose Nuclei	Adipose
14	chr3:140955000-140960600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:140955000-140961800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:140955200-140962000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:140955200-140980600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:140955400-140968400	Genic enhancers	Dnd41	blood
19	chr3:140955400-140985800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr3:140955600-140959800	Weak transcription	Fetal Intestine Large	intestine
21	chr3:140956000-140959400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr3:140956200-140962600	Enhancers	Fetal Brain Male	brain
23	chr3:140956400-140959800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:140956400-140960400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:140956400-140962600	Genic enhancers	Thymus	Thymus
26	chr3:140956600-140960000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:140956600-140962600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr3:140956600-140962600	Enhancers	Fetal Muscle Leg	muscle
29	chr3:140956600-140962600	Enhancers	Left Ventricle	heart
30	chr3:140957000-140959800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:140957000-140961800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:140957000-140962200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr3:140957200-140959600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:140957200-140959800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:140957200-140960200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:140957200-140960200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:140957400-140959400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr3:140957400-140959400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:140957400-140959600	Weak transcription	HSMMtube	muscle
40	chr3:140957400-140961800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr3:140957400-140962000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:140957400-140967800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:140957400-140967800	Weak transcription	Gastric	stomach
44	chr3:140957400-141001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:140957600-140959600	Weak transcription	Fetal Lung	lung
46	chr3:140957600-140961600	Enhancers	Fetal Brain Female	brain
47	chr3:140957600-140961800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:140957800-140961800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:140957800-140962000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:140957800-140973600	Weak transcription	Brain Hippocampus Middle	brain

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