Variant report

Variant	rs28713632
Chromosome Location	chr4:151129270-151129271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151128805..151130494-chr4:151141671..151144389,2	K562	blood:
2	chr1:50273756..50275417-chr4:151127918..151130804,2	MCF-7	breast:
3	chr4:150932709..150934919-chr4:151128696..151130232,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10015813	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1002006	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10471053	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17631799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17631959	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17631971	0.87[AMR][1000 genomes]
rs17688421	0.87[AMR][1000 genomes]
rs2004467	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2054271	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2359940	0.87[AMR][1000 genomes]
rs35861079	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4696635	0.85[AMR][1000 genomes]
rs73858508	0.87[AMR][1000 genomes]
rs922121	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs922122	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9999860	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151103200-151138000	Weak transcription	NH-A	brain
2	chr4:151108600-151130000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:151114200-151154200	Weak transcription	Aorta	Aorta
4	chr4:151120000-151132200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:151122200-151137800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:151123800-151136800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:151124000-151132200	Weak transcription	Right Ventricle	heart
8	chr4:151126200-151130200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:151127000-151130000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:151127000-151132600	Enhancers	Brain Germinal Matrix	brain
11	chr4:151127200-151130600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:151127400-151129800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:151127400-151129800	Enhancers	Fetal Heart	heart
14	chr4:151128000-151132400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:151128000-151132400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:151128000-151132800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:151128000-151132800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:151128000-151137000	Weak transcription	Brain Angular Gyrus	brain
19	chr4:151128000-151138000	Weak transcription	Brain Substantia Nigra	brain
20	chr4:151128000-151138000	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:151128200-151129400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:151128200-151131000	Enhancers	A549	lung
23	chr4:151128200-151132800	Weak transcription	Osteobl	bone
24	chr4:151128200-151137800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:151128400-151132200	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:151128400-151132200	Weak transcription	Fetal Stomach	stomach
27	chr4:151128400-151133800	Weak transcription	HSMM	muscle
28	chr4:151128400-151138200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:151128600-151130600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:151128600-151131400	Weak transcription	HSMMtube	muscle
31	chr4:151128600-151132400	Weak transcription	Fetal Kidney	kidney
32	chr4:151128600-151132800	Weak transcription	Fetal Lung	lung
33	chr4:151128600-151137800	Weak transcription	Brain Anterior Caudate	brain
34	chr4:151128800-151129600	Enhancers	Left Ventricle	heart
35	chr4:151129000-151129400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:151129000-151130600	Enhancers	Brain Hippocampus Middle	brain
37	chr4:151129200-151129400	Enhancers	Fetal Brain Male	brain
38	chr4:151129200-151129600	Weak transcription	Adipose Nuclei	Adipose
39	chr4:151129200-151130000	Weak transcription	Ovary	ovary
40	chr4:151129200-151130400	Weak transcription	Lung	lung
41	chr4:151129200-151131400	Weak transcription	Fetal Brain Female	brain
42	chr4:151129200-151132200	Weak transcription	Right Atrium	heart

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